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​There is an evident practice gap in education of general adult cardiologists on long-term management of congenital heart disease (CHD). The goal of this book is to help general cardiologists, but also pediatricians and related care providers in the management and diagnosis of adult CHD.

Adult Congenital Heart Disease in Clinical Practice provides clear, practical advice on adult CHD for the busy fellow, resident and practicing clinician. It includes training and revision material to assist learning and is formatted in such a way as to provide short, concise content designed for easy recall of salient facts.

साल:
2018
संस्करण:
1st ed.
प्रकाशन:
Springer International Publishing
भाषा:
english
पृष्ठ:
565
ISBN 13:
9783319674209
श्रृंखला:
In Clinical Practice
फ़ाइल:
PDF, 13.79 MB

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आप पुस्तक समीक्षा लिख सकते हैं और अपना अनुभव साझा कर सकते हैं. पढ़ूी हुई पुस्तकों के बारे में आपकी राय जानने में अन्य पाठकों को दिलचस्पी होगी. भले ही आपको किताब पसंद हो या न हो, अगर आप इसके बारे में ईमानदारी से और विस्तार से बताएँगे, तो लोग अपने लिए नई रुचिकर पुस्तकें खोज पाएँगे.
In Clinical Practice

Adult Congenital 
Heart Disease in 
Clinical Practice

Doreen DeFaria Yeh · Ami Bhatt     
Editors



In Clinical Practice



Taking a practical approach to clinical medicine, this series of 
smaller reference books is designed for the trainee physician, 
primary care physician, nurse practitioner and other general 
medical professionals to understand each topic covered. The 
coverage is comprehensive but concise and is designed to act 
as a primary reference tool for subjects across the field of 
medicine.

More information about this series at http://www.springer.
com/series/13483

http://www.springer.com/series/13483
http://www.springer.com/series/13483


Doreen DeFaria Yeh · Ami Bhatt
Editors

Adult Congenital Heart 
Disease in Clinical 
Practice



ISSN 2199-6652     ISSN 2199-6660 (electronic)
In Clinical Practice
ISBN 978-3-319-67418-6    ISBN 978-3-319-67420-9 (eBook)
https://doi.org/10.1007/978-3-319-67420-9

Library of Congress Control Number: 2018958620

© Springer International Publishing AG, part of Springer Nature 2018
This work is subject to copyright. All rights are reserved by the Publisher, 
whether the whole or part of the material is concerned, specifically the rights of 
translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduc-
tion on microfilms or in any other physical way, and transmission or information 
storage and retrieval, electronic adaptation, computer software, or by similar or 
dissimilar methodology now known or hereafter developed.
The use of general descriptive names, registered names, trademarks, service 
marks, etc. in this publication does not imply, even in the absence of a specific 
statement, that such names are exempt from the relevant protective laws and 
regulations and therefore free for general use.
The publisher, the authors, and the editors are safe to assume that the advice and 
information in this book are believed to be true and accurate at the date of pub-
lication. Neither the publisher nor the authors or;  the editors give a warranty, 
express or implied, with respect to the material contained herein or for any errors 
or omissions that may have been made. The publisher remains neutral with 
regard to jurisdictional claims in published maps and institutional affiliations.

This Springer imprint is published by the registered company Springer Nature 
Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland

Editors
Doreen DeFaria Yeh
Massachusetts General Hospital 
Heart Center
Boston,  MA 
USA

Ami Bhatt
Massachusetts General Hospital 
Heart Center
Boston,  MA 
USA

https://doi.org/10.1007/978-3-319-67420-9


Preface

The Adult Congenital Heart Disease Program at the 
Massachusetts General Hospital was established in 1974 by 
Dr. Richard Liberthson, a pioneer in this field who shep-
herded his patients from infancy through childhood and into 
adulthood in health and well-being. Dr. Liberthson cared for 
many thousands of congenital heart patients for over four 
decades with a highly individualized and thoughtful approach, 
and his patients continue to revere him as a beloved member 
of their families. Hundreds of adult and pediatric cardiology 
fellows from across the globe have joined him in his office 
with these patients learning the nuances of the cardiac physi-
cal exam and pearls in clinical management. Through exam-
ple he would ensure that every trainee internalized the 
critical importance of longitudinal personalized care for this 
unique population. This book is dedicated to Dr. Liberthson’s 
legacy, the decades of extraordinary teaching and mentorship 
he has provided to all of us, and to the many generations of 
cardiology fellows he has trained over his career.

Boston, MA, USA Doreen DeFaria Yeh



Contents

Part I  General Introductory Principles

1  Terminology: Defining Cardiac Position,  
Chamber Morphology and Van Praagh  
Nomenclature . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  3
Evin Yucel and Doreen DeFaria Yeh

2  Dextrocardias  . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  11
Evin Yucel

Part II  Shunt Lesions

3  General Principles of Simple Shunt Lesions  . . . . . .  27
Jonathan Kochav

4  Atrial Septal Defects and Sinus Venosus Defects . . .  31
Jonathan Kochav

5  Ventricular Septal Defect  . . . . . . . . . . . . . . . . . . . . . .  55
Jonathan Kochav

6  Atrioventricular Septal Defect . . . . . . . . . . . . . . . . . .  71
Jonathan Kochav

7  Patent Ductus Arteriosus  . . . . . . . . . . . . . . . . . . . . . .  91
Jonathan Kochav

8  Miscellaneous Shunts . . . . . . . . . . . . . . . . . . . . . . . . . .  107
Jonathan Kochav

9  Pulmonary Hypertension and Eisenmenger  
Physiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  117
Jonathan Kochav



viii

10  Persistent Left Superior Vena Cava . . . . . . . . . . . . . .  143
Jonathan Kochav

11  Anomalous Pulmonary Venous Return  . . . . . . . . . .  151
Jonathan Kochav

Part III  Left Heart Obstructive Lesions

12  Cor Triatriatum . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  167
Jonathan Kochav

13  Congenital Mitral Stenosis  . . . . . . . . . . . . . . . . . . . . .  175
Lucy M. Safi

14  Subaortic Stenosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . .  187
Lucy M. Safi

15  Congenital Valvular Aortic Stenosis  . . . . . . . . . . . . .  195
Lucy M. Safi

16  Supravalvular Aortic Stenosis . . . . . . . . . . . . . . . . . . .  209
Lucy M. Safi

17  Coarctation of the Aorta . . . . . . . . . . . . . . . . . . . . . . .  217
Akl C. Fahed

Part IV  Right Heart Obstructive Lesions

18  Valvular Pulmonic Stenosis . . . . . . . . . . . . . . . . . . . . .  235
Jonathan Kochav

19  Supravalvular Pulmonic Stenosis . . . . . . . . . . . . . . . .  251
Christopher Valle

20  Subvalvular Pulmonic Stenosis . . . . . . . . . . . . . . . . . .  265
Christopher Valle

21  Double-Chambered Right Ventricle (DCRV) . . . . .  271
Christopher Valle

Contents



ix

Part V  Conotruncal Abnormalities

22  Double Outlet Right Ventricle . . . . . . . . . . . . . . . . . .  283
Yamini Krishnamurthy

23  Tetralogy of Fallot  . . . . . . . . . . . . . . . . . . . . . . . . . . . .  295
Jonathan Kochav

24  Truncus Arteriosus . . . . . . . . . . . . . . . . . . . . . . . . . . . .  319
Christopher Valle and Michelle Hadley

25  D-Looped Transposition of the Great Arteries . . . .  331
Ada C. Stefanescu Schmidt

26  L-Loop or Congenitally Corrected Transposition 
of the Great Arteries (L-TGA or CCTGA) . . . . . . .  353
Yamini Krishnamurthy

Part VI  Other Complex Lesions

27  Ebstein’s Anomaly of the Tricuspid Valve  . . . . . . . .  371
Jonathan Kochav

28  Anatomic Variants of Univentricular  
Physiology and Fontan Palliation . . . . . . . . . . . . . . . .  391
Ada C. Stefanescu Schmidt

29  Left Ventricular Non- compaction  . . . . . . . . . . . . . . .  417
Evin Yucel

30  Genetic Thoracic Aortic Diseases  . . . . . . . . . . . . . . .  431
Akl C. Fahed

Part VII  Coronary Abnormalities

31  Congenital Coronary Anomalies . . . . . . . . . . . . . . . .  447
Ada C. Stefanescu Schmidt

32  Kawasaki Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  461
Yamini Krishnamurthy

Contents



x

Part VIII  Principles in Adult Congenital Heart Disease

33  Advanced Imaging in Adult Congenital  
Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  477
Sandeep Hedgire, Vinit Baliyan,  
and Brian Ghoshhajra

34  Cardiopulmonary Exercise Testing in ACHD  . . . . .  511
Ada C. Stefanescu Schmidt

35  Obesity and Exercise Recommendations  
in Adult Congenital Heart Disease . . . . . . . . . . . . . .  519
Laura D. Flannery

36  Endocarditis Prophylaxis in ACHD . . . . . . . . . . . . . .  525
Evin Yucel

37  Pregnancy in Adults with Congenital  
Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  533
Evin Yucel

38  Heart Failure and Transplant in Adult Congenital 
Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  551
Laura D. Flannery

39  Atherosclerosis in Adult Congenital  
Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  561
Laura D. Flannery

 Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .  567

Contents



Part I
General Introductory Principles



3© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_1

Chapter 1
Terminology: Defining 
Cardiac Position, 
Chamber Morphology 
and Van Praagh 
Nomenclature
Evin Yucel and Doreen DeFaria Yeh

 Cardiac Position (See Fig. 1.1)

 1. Levocardia: the normal configuration of the base to apex 
axis of the heart is leftward.

 2. Mesocardia: cardiac mass is midline and the apex is point-
ing to the midline.

 3. Dextrocardia: the major axis of the heart points to the right 
of the sternum (dextrocardias are detailed in Chap. 2).

 Morphology of Cardiac Chambers

 1. Atrial chambers: the appendage distinguishes morphologi-
cally the right from left atrium.

E. Yucel, M.D. (*) · D. DeFaria Yeh, M.D.
Massachusetts General Hospital, Corrgian Minehan  
Heart Center, Boston, MA, USA
e-mail: eyucel@mgh.harvard.edu

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_1&domain=pdf
mailto:eyucel@mgh.harvard.edu


4

Dextrocardia Mesocardia Levocardia

Figure 1.1 Cardiac position

 (a) The right atrium is characterized by:

• Triangular appendage with a broad base
• Sinus node is located at the superior cavoatrial junction
• Pectinate muscles occupy the parietal wall and extend 

to the inferior wall towards the coronary orifice
• Muscular rim around the fossa ovalis is located on the 

right atrial side of the intraatrial septum

 (b) The left atrium is characterized by:

• Appendage which is small and hook shaped with nar-
rower base and multiple fingerlike projections

• Pectinate muscles within the atrial body are limited, 
smoother walls

• The thin septum primum (flap) is located on the left 
atrial side of the intraatrial septum

 2. Valvular relationships:

 (a) Morphologic tricuspid valve is always associated with 
the morphologic right ventricle.

 (b) Morphologic mitral valve is always associated with the 
morphologic left ventricle.

 (c) In the presence of a large VSD, valves may either over-
ride or straddle the septum (Fig. 1.2):

• Override: abnormal position of the valve annulus rela-
tive to the septum

E. Yucel and D. DeFaria Yeh



5

 – Can apply to semilunar and atrioventricular (AV) 
valves

• Straddling: inappropriate attachments of chordal sup-
ports to the contralateral ventricle

 – Applies only to the AV valves

RA LA

RV LV

RA LA

RV LV

RA LA

RV LV

Overriding without
straddling

Overriding and
straddling

Straddling without
overriding

Figure 1.2 Straddling and overriding

Chapter 1. Terminology: Defining Cardiac Position



6

 3. Ventricles:

 (a) The right ventricle is characterized by:

• Course trabeculations that emanate from the midsep-
tal wall

• Morphologic tricuspid valve is always associated with 
the morphologic right ventricle

 (b) The left ventricle is characterized by:

• Septal surface is smooth without protruding 
trabeculations

• Aortic-mitral fibrous continuity is seen (exception is 
situation with a subaortic conus)

• Morphologic mitral valve is always associated with the 
morphologic left ventricle

 4. Great arteries  – the appearance of semilunar valves will 
not be distinguishing:

 (a) Aorta:

• Arch gives rises to head and neck vessels
• Coronary arteries arise from the aortic sinuses (with 

rare exception: anomalous left or right coronary aris-
ing from the pulmonary artery)

 (b) Pulmonary trunk:

• No coronary ostia at the sinuses (with the above 
exception)

• Bifurcation into two pulmonary artery trunks

 (c) Common arterial trunk:

• Seen in truncus arteriosus (Chap. 24) where one great 
artery is noted arising from the myocardium (avoid 
misdiagnosis of atretic aortic or pulmonary atresia)

 (d) Solitary arterial trunk:

• Also termed type IV truncus where the solitary trunk 
does not give rise to pulmonary arteries (severe form 
of tetralogy of Fallot with pulmonary atresia, and 

E. Yucel and D. DeFaria Yeh



7

 collateral arteries arise from the descending aorta to 
supply the lungs)

Segmental approach is essential for accurate and thorough 
diagnosis.

 1. Visceroatrial situs (Fig. 1.3)

• Three types of situs:

 – Solitus (S,–,–)
 – Inversus (I,–,–)

Liver

Inferior
vena cava

a b

Descending
aorta
Spine

Liver

Inferior
vena cava

C

Descending aorta

Spine

Inferior
vena cava

Figure 1.3 Abdominal situs. (a) situs solitus with the liver to the 
patient’s right (left of the image) and the descending aorta left of 
midline (b) situs inversus with the liver to the patient’s left and the 
descending aorta to the right of midline and (c) situs ambiguous 
with midline liver and disorganization of vascular arrangement

Chapter 1. Terminology: Defining Cardiac Position



8

 – Ambiguous (A,–,–)
 – The inferior vena cava will always drain into the right 

atrium (unless there is interrupted IVC, which is seen 
in heterotaxy syndromes).

 – Identifying the atrial and visceral situs will aid in 
defining situs inversus (mirror-image dextrocardia), 
situs solitus (dextroversion) and situs ambiguous 
(heterotaxy syndromes)

 2. Ventricular loop

• Bulboventricular loop may be (Fig. 1.4):
 – Rightward (dextro-loop, D-loop) (–,D,–): normal 

position of RV to the right of the LV
 – Leftward (levo-loop or L-loop) (–,L,–): the RV is to 

the left side and posterior to the LV

• Atrioventricular (AV) valves are always associated with 
their morphological ventricles (i.e. tricuspid valve in 
RV, mitral valve in LV)

• Morphological RV: muscular portion of the outflow 
tract, the presence of infundibulum, trabeculations near 
the apex, moderator band, septal leaflet of AV valve is 

Figure 1.4 Primitive cardiac tube

E. Yucel and D. DeFaria Yeh



9

displaced slightly towards the apex and papillary mus-
cles of the RV attached to both the interventricular 
septum and the free wall

• Morphological LV: smooth septal surface, fibrous conti-
nuity between inflow valve and semilunar outflow valve 
and two well-formed papillary muscles attached only to 
the free wall

 3. Position of the great vessels (Fig. 1.5)

• The vessels may be in:
 – Normal position (solitus) (−,–,S)
 – Inverted position (inversus) (−,–,I)
 – D-transposition (−,–,D-TGA)
 – L-transposition (−,–,L-TGA)

• In normal D-bulboventricular loop development, pul-
monic valve (PV) is anterior, superior and to the left of 
the aortic valve (AoV)

• In L-bulboventricular loop with a normal conotruncal 
development, the relationship between the great arter-
ies is mirror image of the normal D-loop; therefore, PV 
is anterior, superior and to the right of the AoV

• Transposition of conotruncal development in D-loop, 
known as D-TGA→ AoV, is anterior and to the right of 
the PV

• Transposition of conotruncal development in L-loop, 
known as L-TGA→ AoV, is anterior and to the left of 
the PV

Figure 1.5 Relationship of great arteries

Chapter 1. Terminology: Defining Cardiac Position



11© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_2

Abbreviations

CHD Congenital heart disease
IVC Inferior vena cava
RA Right atrium
TGA Transposition of the great arteries
TTE Transthoracic echocardiogram

 Epidemiology

• Dextrocardia is a rare congenital abnormality with an esti-
mated incidence of 1 in 8000–25,000 live births.

• Among patients treated by adult congenital heart disease 
(CHD) specialists, the prevalence is 0.5%, of which 2/3rd 
are situs solitus [1].

• For historical background, see Table 2.1.

Chapter 2
Dextrocardias
Evin Yucel

E. Yucel, M.D. ()
Massachusetts General Hospital, Echocardiography section, 
Boston, MA, USA
e-mail: eyucel@mgh.harvard.edu

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_2&domain=pdf
mailto:eyucel@mgh.harvard.edu


12

 Anatomic Definition and Pathophysiology

 1. Anatomy:

 (a) The normal configuration of the base to apex axis of 
the heart is leftward, which is called levocardia. When 
the apex is pointing to the midline, it is defined as 
mesocardia. In dextrocardia, the major axis of the 
heart points to the right of the sternum.

 (b) Dextrocardia is a consequence of abnormal lateraliza-
tion of the embryonic left-right axis during early devel-
opment. This is contrary to dextroposition, where the 
heart is positioned in the right thorax due to mechani-
cal considerations such as right lung hypoplasia or a 
space-occupying mass, with the apex still pointing left-
ward (Fig. 2.1).

 (c) During development, dextrocardia results from either 
a failure of the D-bulboventricular looped heart tube 
to migrate (or sweep) into the left hemithorax, which 
occurs generally during week 5 of gestation, or suc-
cessful apical shifting of the L-bulboventricular looped 
heart tube to the right hemithorax.

 (d) Three configurations:

• Situs solitus  – normal asymmetrical arrangement of 
abdominal and thoracic organs:
 – Liver – right.
 – Stomach and spleen – left.

Table 2.1 Historical background
Dextrocardia, one of the first congenital malformations 
of the heart, was recognized in the seventeenth century 
by Hieronymus Fabricius and Aurelio Severino. Matthew 
Baillie published his experience in 1793 in a book entitled, 
The Morbid Anatomy of Some of the Most Important Parts 
of the Human Body. In 1915, Richard Paltaus described the 
various types of dextrocardia, and later in 1928, Mandelstam 
and Reinberg proposed the first classification of cardiac 
malpositions. Maria de la Cruz published her work on the 
embryologic basis of malpositions in 1931 [2].

E. Yucel



13

 – Inferior vena cava (IVC) – right and flows into the 
right atrium (RA).

 – The right lung has three lobes, and the left lung has 
two lobes.

 – The left  hemidiaphragm is lower than the right 
hemidiaphragm.

 – The aorta descends on the left.

• Situs inversus – mirror image of normal, with reversal 
of abdominal and thoracic structures:
 – Liver – left
 – Stomach – right

Figure 2.1 Chest X-ray in a patient with dextroposition due to right 
pneumonectomy. The cardiac apex is pointing toward left, but the 
cardiac silhouette and bronchus are seen on the right side of the 
sternum

Chapter 2. Dextrocardias



14

 – IVC – left and flows into left-sided RA.
 – The left lung has three lobes, and the right lung has 

two lobes.
 – The right  hemidiaphragm is lower than the left 

hemidiaphragm.
 – Aorta descends on the right.

• Situs ambiguous (heterotaxy)  – the relationship 
between atria and viscera is inconsistent:

 – Asplenia syndrome  – bilateral right sidedness (two 
morphologic right atria and two trilobed right lungs), 
absent spleen, associated with common atrioventric-
ular canal, univentricular heart, transposition of the 
great arteries (TGA), and total anomalous pulmo-
nary venous return

 – Polysplenia  – bilateral left sidedness (two morpho-
logical left atria and two bilobed left lungs), multiple 
small spleens that are adjacent to the stomach, com-
monly associated with azygous continuation of the 
IVC (interrupted IVC), partial anomalous pulmo-
nary venous return, atrial septal defect, and endocar-
dial cushion defect

 (e) In adults, dextrocardia can be seen with:

• Situs inversus or situs inversus totalis, L-loop ventri-
cles, and inverted great vessels (not transposed), 
known as “mirror-image dextrocardia” (most common 
in general population). This configuration is due to the 
successful sweeping of L-looped ventricles (Fig. 2.2).

• Situs solitus with D-loop ventricles and normally 
related great arteries, known as “dextroversion” or 
“isolated dextrocardia” (second most common in gen-
eral population). This configuration is due to failure of 
the apical sweep to the left (Fig. 2.2).

• Situs solitus with L-loop ventricles and L-TGA, where 
there is atrioventricular and ventriculoatrial 

E. Yucel



15

discordance. The morphological left ventricle (LV) is 
in subpulmonic position, and the morphological right 
ventricle (RV) is the systemic ventricle; however, due 
to dextrocardia, the LV is to the left of the RV.

• Situs inversus with D-loop ventricles and D-TGA.
• Associated with the asplenia or polysplenia 

syndrome.

 2. Physiology:

 (a) Physiology of dextrocardias depends on the associated 
cardiac abnormalities.

 3. Spectrum of disease:

 (a) Mirror-image dextrocardia and structurally normal 
heart is usually an incidental finding on physical exam 
and/or chest X-ray.

 (b) The clinical course of isolated dextrocardia (dextro-
version) is dependent upon the associated CHD.

 (c) Majority of patients with heterotaxy syndrome with 
asplenia do not reach adult age, with a mortality rate 
of up to 80% by the first year of life.

Dextroversion
(Isolated Dextrocardia)

RA

LA

LV

RV RA

LA

LV

RV

RA

LA

LV
RV

Mirror-Image Dextrocardia
Situs solitus with

L-loop ventricles and L-TGA

RA-Right atrium; RV-Right ventricle; LA-left atrium; LV-Left ventricle

Figure 2.2 The configuration of dextroversion and mirror-image 
dextrocardia. The cardiac apex is pointing rightward of the sternum. 
In dextroversion, the right atrium and right ventricle are to the right 
of the left atrium and left ventricle, while the atria and ventricle are 
in their normal position in mirror-image dextrocardia. RA right 
atrium, RV right ventricle, LA left atrium, LV left ventricle

Chapter 2. Dextrocardias



16

 4. Associated defects:

 (a) Kartagener’s syndrome is seen in 25% of patients who 
have “mirror-image dextrocardia” and is characterized 
by the presence of situs inversus totalis, paranasal 
sinusitis, bronchiectasis, ciliary dysmotility, and infer-
tility. Other cardiac abnormalities are rare in mirror- 
image dextrocardia [3].

 (b) In isolated dextrocardia (also as known as dextrover-
sion), anomalous pulmonary venous return, tetralogy 
of Fallot, septal defects, pulmonic stenosis, coarctation 
of the aorta, and TGA can be seen. Isolated dextrover-
sion is rare.

 (c) Pulmonary outflow obstruction, systemic atrioventric-
ular valve dysfunction, dysplastic tricuspid valve, 
Ebstein’s anomaly, and atrioventricular blocks are 
common in other forms of dextrocardia [3].

 5. Genetics and maternal factors:

 (a) Maternal pregestational diabetes during pregnancy 
can be associated with heterotaxy syndromes in the 
offspring [4].

 (b) Family history of cardiac malformations and the pres-
ence of dextrocardias in twins suggest a genetic basis 
for these defects [5].

 Diagnostics

 Clinical Presentation in Adults

• Clinical presentation depends on the configuration of the 
dextrocardia and associated cardiac malformations. Refer 
to individual chapters for details on associated 
malformations.

• Chest pain will be on the right side with radiation to the 
right arm.

E. Yucel



17

 Physical Exam

• Cardiac dullness will be to the right of the sternum.
• In mirror-image dextrocardia, hepatic dullness will be on 

the left.
• In isolated dextrocardia (or dextroversion), hepatic dull-

ness will be on the right.
• Refer to individual chapters for physical exam findings for 

associated cardiac malformations.

 Electrocardiography

• In mirror-image dextrocardia (Fig. 2.3)
 – Predominantly negative P wave, QRS complex, and 

T wave in lead I.
 – Reverse R wave progression in precordial leads (low 

voltage of R wave in V3–V6)
 – Right axis deviation

Figure 2.3 EKG of a patient with mirror-image dextrocardia. There 
is negative P wave, QRS, and T waves in lead I with reverse R wave 
progression

Chapter 2. Dextrocardias



18

• In dextroversion (Fig. 2.4)

 – P wave is positive in lead I; QRS and T wave mor-
phology depends on the type and degree of associ-
ated anomalies.

 – Anterior precordial leads (V2–V4) have small Q 
waves and tall R waves; QRS amplitude progres-
sively decreases from V1 to V6.

 Chest X-Ray

• In mirror-image dextrocardia (Fig. 2.5)

 – The apex of the heart is in the right hemithorax.
 – Liver shadow is on the left and stomach bubble is on 

the right side.
 – Elevated left hemidiaphragm.
 – Descending aorta will be on the right side of the 

sternum.

• Dextroversion (or isolated dextrocardia) (Fig. 2.6)

 – Apex of the heart is in the right hemithorax.
 – Liver shadow is on the right side and stomach bubble 

is on the left.

Figure 2.4 EKG of a patient with dextroversion. P wave is positive 
in lead I, anterior precordial leads have small Q and tall R, QRS 
amplitude decreases to V6

E. Yucel



19

 – Elevated right hemidiaphragm.
 – Descending aorta will be on the left side.

 Echocardiography

• In mirror-image dextrocardia, intracardiac connections are 
often normal; however, the morphological right atrium 
and right ventricle are to the left of the morphological left 
atrium and left ventricle.

• In dextroversion (or isolated dextrocardia), atria are in 
their usual place or shifted slightly to the right.

• Table 2.2 highlights the essentials of echocardiographic 
assessment of patients with dextrocardia.

Figure 2.5 CXR in a patient with mirror-image dextrocardia. 
Cardiac silhouette is in the right chest cavity with the apex of the 
heart pointing rightward, there is a right-sided aorta and the left 
hemidiaphragm is elevated

Chapter 2. Dextrocardias



20

 Cardiac Catheterization

• The coronary artery course is determined by the ventricular 
looping. In D-loop ventricles, the anterior descending artery 
is supplied from the left coronary artery (originating from 
the left sinus of Valsalva), whereas in L-loop ventricles, the 
anterior descending artery is supplied by the right coronary 
artery (originating from the right sinus of Valsalva) [3].

• In mirror-image dextrocardia, the aorta is right sided; in 
dextroversion, the aorta is left sided (in the normal 
position).

Figure 2.6 CXR in a patient with dextroversion. The stomach bub-
ble is to the left and the hemidiaphragm position is ambiguous due 
to patient positioning.

E. Yucel



21

Ta
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Chapter 2. Dextrocardias



22

 Advanced Imaging Techniques

• Cardiac computed tomography and magnetic resonance 
imaging demonstrate the right-sided position of the heart 
apex, situs of the viscera, ventricular loop, and position of 
the great vessels.

 Management of Adult Survivors

• There are no specific guidelines for management of 
patients without any other CHD.

• For management of associated cardiac abnormalities, refer 
to individual chapters.

 Management of Pregnancy

• Patients with dextrocardias without any associated cardiac 
abnormalities are not at an increased risk for adverse preg-
nancy outcomes. However, a higher-than-expected preva-
lence of small for gestational age infants has been reported 
in patients with mirror-image dextrocardias (5).

• In the setting of other associated cardiac abnormalities, the 
modified World Health Organization classification of 
maternal cardiovascular risk stratification should guide 
the management of pregnant women. (See Chap. 37 for 
Management of Pregnancy in Adult Congenital Heart 
Disease).

References

 1. Offen S, Jackson D, Canniffe C, Choudhary P, Celermajer 
DS. Dextrocardia in adults with congenital heart disease. Heart 
Lung Circ. 2016;25:352–7.

 2. Perloff JK.  The cardiac malpositions. Am J Cardiol. 2011;108: 
1352–61.

E. Yucel



23

 3. Maldjian PD, Saric M. Approach to dextrocardia in adults: review. 
AJR Am J Roentgenol. 2007;188:S39–49; quiz S35–8.

 4. Jenkins KJ, Correa A, Feinstein JA, et al. Noninherited risk factors 
and congenital cardiovascular defects: current knowledge: a scien-
tific statement from the American Heart Association Council on 
Cardiovascular Disease in the Young: endorsed by the American 
Academy of Pediatrics. Circulation. 2007;115:2995–3014.

 5. Kuehl KS, Loffredo C. Risk factors for heart disease associated 
with abnormal sidedness. Teratology. 2002;66:242–8.

 6. Fung TY, Chan DL, Leung TN, Leung TY, Lau TK. Dextrocardia 
in pregnancy: 20 years’ experience. J Reprod Med. 2006;51:573–7.

 7. Otto CM.  The practice of clinical echocardiography. 3rd ed. 
Philadelphia: Saunders/Elsevier; 2007.

Chapter 2. Dextrocardias



Part II
Shunt Lesions



27© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_3

 Introduction

There are several congenital abnormalities that cause blood 
flow to deviate from the normal circuit. While they may differ 
in regard to size, location with respect to the tricuspid valve 
and pressure gradient across the shunt, there are several uni-
fying concepts that are useful in understanding the patho-
physiology of simple shunt lesions.

 General Features of Shunt Lesions

 Defining the Size of the Shunt

• The shunt volume generally determines the physiologic 
impact of a shunt.

• The shunt volume can be quantified by the Qp/Qs ratio, 
where Qp is an estimate of pulmonary blood flow and Qs 
an estimate of systemic blood flow.

 – A Qp/Qs ratio of 1:1 is normal and indicates an absence 
or balance of shunting.

Chapter 3
General Principles of Simple 
Shunt Lesions
Jonathan Kochav

J. Kochav, M.D. ()
Massachusetts General Hospital, Boston, MA, USA

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_3&domain=pdf


28

 – A Qp/Qs ratio of >1 indicates that pulmonary blood 
flow exceeds systemic blood flow and the presence of 
left-to-right shunting.

 – Conversely a Qp/Qs ratio of <1 indicates right-to-left 
shunting.

• Qp and Qs can be estimated by echocardiography or phase-
contrast cardiac MRI measurements of stroke volume. The 
gold standard is cardiac catheterization with measurement 
of oxygen saturations of the various circulations [1].

 – The Qp/Qs is derived from the shunt fraction calcula-
tion, which examines the ratio of the oxygen-carrying 
capacity of blood in various circulations.

Oxygen obtained in the pulmonary capillaries = 
(CpvO2–CpaO2) × Qp

Oxygen delivered to systemic tissues = (CaO2–CvO2) × Qs

 – where CaO2, CvO2, CpaO2, and CpvO2 represent sys-
temic arterial, systemic venous, pulmonary arterial, and 
pulmonary venous oxygen content.

 – Using the assumption that oxygen delivered to the sys-
temic tissues is equal to the oxygen obtained in the 
pulmonary capillaries:

Qp/Qs = (CaO2–CvO2)/(CpvO2–CpaO2)

 – The oxygen content of each of the circulations can be 
determined by the following relationship between 
hemoglobin (Hgb), oxygen saturation (Sat), and partial 
pressure of oxygen:

CO2 = (1.34 × Sat × Hgb) + (PO2 × 0.003)

 – Because hemoglobin is fixed across all circulations and the 
partial pressure of dissolved oxygen is negligible, the Qp/
Qs equation can be simplified into the following formula:

Qp/Qs = [(SaO2–SvO2)/(SpvO2–SpaO2)]

 – where SaO2 is the systemic arterial oxygen saturation, 
SvO2 is the central venous oxygen saturation, SpvO2 is 
the pulmonary venous oxygen saturation (obtained as a 
pulmonary capillary wedge saturation), and SpaO2 is 
the pulmonary arterial oxygen saturation.

J. Kochav



29

 Volume Overload and Chamber Enlargement

• Shunt lesions will lead to volume overload and chamber 
enlargement.

• The magnitude of chamber enlargement will depend on 
the size of the shunt.

 – Pre-tricuspid lesions will result in volume overloading 
of the right atrium (RA) and right ventricle (RV).

Atrial septal defects and sinus venosus defects
Anomalous pulmonary venous return
The Gerbode defect: left ventricle (LV) to RA shunt

 – Post-tricuspid lesions will lead to an increased pulmo-
nary venous return and volume overloading of the left 
atrium (LA) and LV.

Ventricular septal defects
Patent ductus arteriosus

 – Mechanism of LV volume loading:

With a left-to-right shunt, the LV output into the systemic 
circulation is reduced by the volume of the shunt.

The patient will compensate by increasing intravascular 
volume until LV end-diastolic volume is sufficient to 
generate both a normal cardiac output and the pro-
portionate left-to-right shunt. The result is LV vol-
ume overload [2].

 Right-Sided Pressure Overload

•  Right-sided pressure overload occurs as a consequence of 
both direct transmission of pressure from the higher- pressure 
left-sided circuit to the right heart, and increased afterload.

 – Direct transmission of pressure:

A large unrestricted ventricular septal defect will 
 elevate (RV) pressures irrespective of pulmonary 
vascular remodeling.

Chapter 3. General Principles of Simple Shunt Lesions



30

Similarly, a large patent ductus arteriosus will elevate 
pulmonary arterial pressures.

 – Increased afterload:

Over time, pulmonary over-circulation leads to vascular 
remodeling in the form of medial hypertrophy of the 
pulmonary arterioles [3].

The consequence is increased pulmonary vascular resis-
tance, resulting in elevated right-sided pressures as 
the RV aims to maintain cardiac output.

If right-sided pressures approximate and then exceed 
left- sided pressures, the shunt direction can reverse, 
resulting in systemic cyanosis (see Chap. 9 
Eisenmenger Physiology).

References

 1. Stark RJ, Shekerdemian LS. Estimating intracardiac and extra-
cardiac shunting in the setting of complex congenital heart dis-
ease. Ann Pediatr Cardiol. 2013;6:145–51.

 2. Sommer RJ, Hijazi ZM, Rhodes JF Jr. Pathophysiology of con-
genital heart disease in the adult: part I: shunt lesions. Circulation. 
2008;117:1090–9.

 3. Fried R, Falkovsky G, Newburger J, et al. Pulmonary arterial 
changes in patients with ventricular septal defects and severe 
pulmonary hypertension. Pediatr Cardiol. 1986;7:147–54.

J. Kochav



31© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_4

Atrial Septal Defects 
and Sinus Venosus Defects
Jonathan Kochav

Chapter 4

J. Kochav, M.D.  ()
Massachusetts General Hospital, Boston, MA, USA

 Epidemiology

•  Atrial septal defects (ASD) are quite common with an inci-
dence of about 1 per 400–800 live births, accounting for 
around 13% of all congenital heart disease (CHD) [1, 2]. As a 
whole, these lesions occur in nearly equal proportion in males 
and females [1] though differences are seen among subtypes.

• See Table 4.1 for historical background.

 Anatomic Definition and Pathophysiology

 1. Anatomy:

 (a) There are several subtypes of ASDs, including primum, 
secundum, and although not technically defects of the 

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_4&domain=pdf


32

atrial septum, inferior or superior sinus venosus defects 
and coronary sinus defects which demonstrate similar 
shunt physiology and are therefore included in this sec-
tion (Fig. 4.1).

• Ostium primum defect (10–15%): component of par-
tial or complete atrioventricular (AV) canal defects:

 – Typically associated with mitral valve deformities 
such as cleft mitral valve.

 – They are defects low in the atrial septum bounded 
posteriorly by mitral and tricuspid valves. These 
defects occur as a result of abnormal develop-
ment of the endocardial cushions and therefore 
lie on an embryologic continuum with atrioven-
tricular canal defects.

 – The Rastelli classification is used to describe AV 
septal defects: 

⚬ With Rastelli type A the superior bridging leaf-
let is divided equally across the ventricular 
septum. It is commonly associated with outflow 
tract  obstruction due to LVOT elongation. 

Table 4.1 Historical background
Leonardo da Vinci’s description in 1513 of a “perforating 
channel” in the atrial septum is believed to be the first recorded 
account of a congenital malformation of the human heart [3].

In 1948 Gordon Murray reported the first surgical closure of an 
ASD by externally suturing the septum through the atrial wall [4].

In 1952 John Gibbon closed a large secundum atrial septal 
defect in an 18-year-old woman marking the first open-heart 
cardiac surgery performed on the cardiopulmonary bypass 
machine he developed [5].

A successful transcatheter closure was first reported by 
T.D. King and N.L. Mills in 1976, revolutionizing the 
management of patients with secundum defects and amenable 
anatomy [6].

J. Kochav



33

⚬ Rastelli type C has a few floating superior 
bridging leaflet and is associated with Down 
syndrome.

• Ostium secundum defect (65%): most common 
ASD due to deficiency of the septum primum in the 
region of the fossa ovalis

 – Vary widely in size.
 – Located at the site of the fossa ovalis.
 – Occur more commonly in females in a ~2:1 ratio 

[1, 8]

• Sinus venosus defect (10–15%): located at the junc-
ture of the superior or inferior vena cava with the 
atrial septum (Fig. 4.2):

 – Technically they are not atrial septal defects, as 
the defect is that of the great veins meeting the 
atrial septum

Anomalous
pulmonary vein

Sinus venosus

Secundum

Primum

Figure 4.1 Depiction of types of atrial septal defects [7]

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



34

• Coronary sinus defect: very rare, associated with 
complex cardiac lesions

 2. Physiology:

 (a) An ASD initially results in a left-to-right atrial shunt 
due to increased compliance of the right heart

a

b

Figure 4.2 (a) Transesophageal echocardiography of a superior sinus 
venosus defect. The SVC is to the right of the image. (b) Cardiac CT 
angiogram axial image depicting a superior sinus venosus defect

J. Kochav



35

 (b) Right-sided volume overload eventually leads to right 
atrial, right ventricular (RV), and pulmonary artery 
enlargement

 (c) Reduced left ventricular (LV) preload results in 
reduced maximal cardiac output

 (d) Patients are often asymptomatic for decades before devel-
oping atrial arrhythmias and RV dilation/dysfunction

 (e) Rarely with large unrepaired ASDs, pulmonary arterial 
hypertension (PAH) may develop and progress, resulting 
in shunt reversal (right-to-left) and systemic hypoxemia 
(see Chap. 9 on Eisenmenger Syndrome). Of note, 6–8% 
of patients with an ASD may develop pulmonary hyper-
tension (in the absence of Eisenmenger syndrome).

 3. Spectrum of disease:

 (a) The size of the lesion and severity of associated defects 
define the disease spectrum

 (b) Larger lesions result in higher-volume shunting (higher 
Qp/Qs):

• Patients develop exercise intolerance, failure to 
thrive, recurrent respiratory infections, or arrhyth-
mia in childhood

• Exercise intolerance, arrhythmia (atrial fibrillation), 
right heart failure, RV dysfunction, paradoxical emboli, 
stroke, and pulmonary hypertension can all present in 
adulthood in association with ASDs

 (c) Most patients with moderate-sized defects develop 
symptoms before the age of 40

 (d) Patients with small defects, <1 cm in size, may remain 
asymptomatic into the fourth and fifth decade of life [9]

 4. Associated defects:

 (a) Associated abnormalities are frequently present with 
ASD [10]:

• Ostium primum defect (atrioventricular canal-type 
defect):

 – Associated with a cleft mitral valve, with cleft 
directed toward the mid-ventricular septum.

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



36

 – Left ventricular outflow tract obstruction may 
develop over time with contribution from an 
elongated LVOT, abnormal chordal attachments 
to the LV side of the ventricular septum, dis-
crete subaortic stenosis, septal hypertrophy, 
anomalous anterolateral papillary muscles, and 
aneurysm of the membranous septum into the 
LVOT.

• Ostium secundum defect:

 – Valvular pulmonary stenosis
 – Bicuspid aortic valve
 – Rarely associated with superior sinus venosus 

defects and/or partial anomalous pulmonary 
venous drainage of the right pulmonary veins

 – Late mitral valve degeneration and mitral regur-
gitation [11]

• Sinus venosus defect:

 – Often associated with partial anomalous pulmo-
nary venous drainage of the right pulmonary 
veins

• Coronary sinus defect:

 – Associated with complex cardiac lesions
 – Partial anomalous pulmonary venous drainage
 – Persistent left superior vena cava draining to the 

coronary sinus

• Various types of ASDs frequently coexist (e.g. 
important to screen for sinus venosus defects before 
percutaneously closing a secundum defect).

• Atrial septal aneurysms, defined by an excursion of 
15 mm due to redundant atrial septal tissue, are 
commonly associated.

J. Kochav



37

 5. Genetic and maternal factors:

 (a) Several specific genes such as homeobox transcription 
factor gene NKX2.5 [12], GATA4 [13], and MYH6 [14] 
have been implicated in families with autosomal domi-
nant pattern of inheritance.

 (b) Patients who have ASDs associated with an NKX2.5 
mutation may be at risk for complete heart block.

 (c) Parents with sporadic ASDs have an increased likeli-
hood (~10%) of having offspring with CHD, including 
ASDs [15].

 (d) Both ostium primum and ostium secundum defects 
have been associated with trisomy 21 (Down syn-
drome). Importantly, 75% of patients with a complete 
AVSD have trisomy 21.

 (e) ASDs have been associated with the autosomal domi-
nant Holt-Oram syndrome (absent radial bone, ASD, 
and first-degree heart block) [16]. These individuals 
may have a mutation in the TBX5 gene.

 Diagnostics

 Clinical Presentation in Adults

• Patients most commonly present with symptoms of dys-
pnea on exertion and palpitations.

• Patients may be diagnosed after auscultation of an abnor-
mal cardiac exam, observation of cardiomegaly on routine 
chest imaging, or incidentally during cardiac imaging.

• Alternatively, patients may present with stroke or systemic 
ischemic event due to a paradoxical embolism.

• In rare circumstances, patients may present with the 
platypnea- orthodeoxia syndrome:

 – Characterized by dyspnea and deoxygenation when 
changing from a recumbent to an upright position

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



38

 – In these patients, assuming an upright position leads to 
an increase in blood flow from the inferior vena cava 
(IVC) through the septal defect resulting in an increased 
right-to-left shunting of blood

 – Often associated with a prominent persistent Eustachian 
valve, which functions to direct flow from the IVC 
toward the foramen ovale in the developing fetus

•  Patients who have undergone repair early in childhood are 
usually free of symptoms and complications for the duration 
of their lives. However, older adult patients may have dyspnea 
on exertion related to exercise-induced pulmonary hyperten-
sion, which may occur despite remote defect closure.

 Physical Exam

• Unrepaired adult:

 – Right-sided volume overload:

⚬ May result in a fixed split S2, due to delayed closure of 
the pulmonary valve that does not vary with inspiration

⚬ A pulmonary outflow murmur may be heard over 
the left upper sternal border due to increased flow 
over the pulmonary valve

⚬ With very large shunts, a diastolic flow murmur may 
be heard across the tricuspid valve

⚬ RV heave

 – Platypnea-orthodeoxia:

Peripheral oxygen saturations will demonstrate hypox-
emia when moved from a recumbent to an upright 
position in patients with position-dependent right-
to-left shunting through the ASD.

• Repaired patient:

 – Exam should be normal, with return of normal physio-
logic splitting of S2; however, sometimes pulmonary 
outflow murmurs may persist, and a right bundle 
branch block (RBBB) may affect the S2 split. A holo-

J. Kochav



39

systolic murmur of mitral regurgitation may be present 
in individuals with a residual mitral cleft in AVSD. 
Later in life a holosystolic, or midsystolic, click and 
murmur may develop in secundum ASD patients who 
evolve mitral regurgitation or mitral valve prolapse 
with regurgitation, respectively.

• Eisenmenger exam:

 – See Chap. 9 for further details on the Eisenmenger exam.

 Electrocardiogram

• Right atrial enlargement
• Incomplete RBBB
• Lesion-specific electrocardiographic abnormalities:

 – Ostium primum defects (Fig. 4.3a):

Left axis deviation, likely due to a congenitally anoma-
lous or hypoplastic left anterior fascicle [18]. S wave 
in lead III and R wave in lead AVR

 – Ostium secundum ASD (Fig. 4.3b):

Incomplete RBBB
Right axis deviation due to RV hypertrophy

 – Sinus venosus defect (Fig. 4.3c):

Abnormal P wave axis may be seen with superior sinus 
venosus defects due to displacement of the sinoatrial 
node.

Abnormal conduction pattern or an ectopic atrial pace-
maker may occur as the defect approaches the sinus 
node and may disrupt normal conduction.

 Chest Radiograph

• Right atrial and right ventricular enlargement
• Prominent pulmonary arteries, with increased pulmonary 

vasculature

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



40

a

b

c

Figure 4.3 (a) ECG tracing of patient with primum ASD (partial AV 
canal defect). Note RBBB with left axis deviation. (b) ECG tracing of 
a patient with a secundum ASD. Note RBBB with rightward axis. (c) 
ECG tracing of patient with sinus venosus defect. Note low atrial focus 
(inverted P waves in leads III, aVF). (d) Movies: Echo images. Apical 
four-chamber view of adult patient with unrepaired primum ASD

J. Kochav



41

Figure 4.3 (continued)

 Echocardiography

• Standard 2D transthoracic echocardiogram with color 
Doppler will generally make the diagnosis of an ASD:

 – When color Doppler is inconclusive, contrast echocar-
diography with intravenous agitated saline may be use-
ful in making the diagnosis of an intra-atrial right-to-left 
shunt

 – Tilt-table testing may show position-dependent right- 
to- left shunting, consistent with a diagnosis of 
platypnea-orthodeoxia

 – Sinus venosus or coronary sinus defects can be challeng-
ing to see on routine transthoracic imaging. A transesoph-
ageal approach is indicated if suspicion is high (e.g., RV 
dilation without an obvious secundum or primum defect).

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



42

If an inferior sinus venosus defect is suspected, injection 
of agitated saline should be administered using the 
lower extremity.

• Assessment of right atrial and RV volumes is essential, as 
enlargement of these chambers is an indication for defect 
closure.

• It is important to define the margins of the defect in con-
sideration for device closure and to identify other associ-
ated pretricuspid lesions if present. More advanced 
imaging techniques such as transesophageal echocardio-
gram,  cardiac CT, or cardiac MRI are often utilized for this 
purpose and may be helpful in identifying associated pul-
monary venous anomalies.

• Table 4.2 highlights the essentials of echocardiographic 
assessment of patients with ASD, both pre and post com-
plete repair.

 Cardiac Catheterization

• Routine diagnostic right heart catheterization is generally 
not needed for diagnosis or risk stratification of patients 
with atrial septal defects, particularly if noninvasive 
 echocardiographic assessment demonstrates no significant 
elevation in pulmonary pressures.

• A coronary evaluation is reasonable in patients with 
planned operative management who have an increased 
risk of coronary artery disease.

• In select cases of patients with pulmonary hypertension, 
preoperative right heart catheterization with inhaled 
nitric oxide (iNO) may be useful to assess for revers-
ibility of severe pulmonary hypertension, as this may 
influence the decision for defect closure. Similarly, 
assessment of hemodynamics during a temporary test 
occlusion may assist in the decision- making. If cardiac 
output declines with test balloon occlusion, the defect 
should not be closed.

J. Kochav



43

 Advanced Imaging Techniques

• Cardiac CT angiography performed at an ACHD center is 
useful for:

 – Direct visualization of the septal defect
 – Complete definition of the defect borders
 – Sizing of the surrounding rim
 – Identification of associated pulmonary venous abnor-

malities (Fig. 4.4).

Table 4.2 Echocardiographic essentials for assessment [17]
Atrial septal defects Postoperative 

ASD
Post device 
closure ASD

1.  ASD size and 
location from 
multiple windows

2. Size of septal rims
3. RV size and function
4.  Estimated RV 

and pulmonary 
arterial pressure 
from tricuspid 
and pulmonary 
regurgitation jet 
velocities

5.  Associated 
lesions—pulmonic 
stenosis, mitral valve 
prolapse, cleft mitral 
valve, anomalous 
pulmonary veins, 
and persistent left 
superior vena cava

1.  Evidence 
of residual 
shunting

2.  Residual 
pulmonary 
hypertension

3.  Persistent RV 
enlargement 
and dysfunction

4.  RV or right 
atrial thrombus

5.  Mitral 
regurgitation 
from cleft 
mitral valve or 
mitral valve 
prolapse

6.  Superior 
vena cava or 
pulmonary vein 
stenosis after 
sinus venosus 
ASD repair

1.  Device 
position

2.  Evidence 
of residual 
shunting

3.  Device 
impingement 
upon systemic 
or pulmonary 
venous inflow

4.  Device 
impairment of 
aortic, mitral, 
or tricuspid 
valve function

5.  Device 
impingement 
upon posterior 
aortic wall

6.  Thrombus or 
vegetation on 
right or left 
atrial device 
facets

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



44

Use of this modality is limited by radiation exposure con-
cerns in young patients, although the amount of radiation has 
significantly decreased with evolving scan protocols [19]:

• Cardiac MRI provides similar diagnostic delineation, with-
out exposing patients to ionizing radiation:

 – Phase contrast imaging through the LV and RV outflow 
tracts can be used for defining Qp/Qs and shunt 
fraction.

 Management of Adult Survivors

See Table 4.3 for summary of most recent guidelines.

SVC

LSPV

Figure 4.4 Three-dimensional CT angiography of anomalous left 
upper pulmonary venous drainage to the innominate vein

J. Kochav



45

Ta
bl

e 
4.

3 
A

C
C

/A
H

A
 g

ui
de

lin
es

 2
00

8 
[1

0]
R

ec
om

m
en

da
ti

on
s 

fo
r 

ev
al

ua
ti

on
 o

f 
th

e 
un

op
er

at
ed

 p
at

ie
nt

R
ec

om
m

en
da

ti
on

s 
fo

r 
po

st
in

te
rv

en
ti

on
 f

ol
lo

w
-u

p

C
la

ss
 I

 1.
  A

SD
 s

ho
ul

d 
be

 d
ia

gn
os

ed
 b

y 
im

ag
in

g 
te

ch
ni

qu
es

 w
it

h 
de

m
on

st
ra

ti
on

 o
f 

sh
un

ti
ng

 a
cr

os
s 

th
e 

de
fe

ct
 a

nd
 e

vi
de

nc
e 

of
 

R
V

 v
ol

um
e 

ov
er

lo
ad

 a
nd

 a
ny

 a
ss

oc
ia

te
d 

an
om

al
ie

s 
(L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
 2.

  P
at

ie
nt

s 
w

it
h 

un
ex

pl
ai

ne
d 

R
V

 v
ol

um
e 

ov
er

lo
ad

 s
ho

ul
d 

be
 

re
fe

rr
ed

 t
o 

an
 A

C
H

D
 c

en
te

r 
fo

r 
fu

rt
he

r 
di

ag
no

st
ic

 s
tu

di
es

 t
o 

ru
le

 o
ut

 o
bs

cu
re

 A
SD

, p
ar

ti
al

 a
no

m
al

ou
s 

ve
no

us
 c

on
ne

ct
io

n,
 

or
 c

or
on

ar
y 

si
no

se
pt

al
 d

ef
ec

t 
(L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
C

la
ss

 I
Ia

 1.
  M

ax
im

al
 e

xe
rc

is
e 

te
st

in
g 

ca
n 

be
 u

se
fu

l t
o 

do
cu

m
en

t 
ex

er
ci

se
 

ca
pa

ci
ty

 in
 p

at
ie

nt
s 

w
it

h 
sy

m
pt

om
s 

th
at

 a
re

 d
is

cr
ep

an
t 

w
it

h 
cl

in
ic

al
 f

in
di

ng
s 

or
 t

o 
do

cu
m

en
t 

ch
an

ge
s 

in
 o

xy
ge

n 
sa

tu
ra

ti
on

 in
 p

at
ie

nt
s 

w
it

h 
m

ild
 o

r 
m

od
er

at
e 

PA
H

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
2.

  C
ar

di
ac

 c
at

he
te

ri
za

ti
on

 c
an

 b
e 

us
ef

ul
 t

o 
ru

le
 o

ut
 

co
nc

om
it

an
t 

co
ro

na
ry

 a
rt

er
y 

di
se

as
e 

in
 p

at
ie

nt
s 

at
 r

is
k 

be
ca

us
e 

of
 a

ge
 o

r 
ot

he
r 

fa
ct

or
s 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 B
)

C
la

ss
 I

 1.
  E

ar
ly

 p
os

to
pe

ra
ti

ve
 s

ym
pt

om
s 

of
 u

nd
ue

 f
ev

er
, f

at
ig

ue
, 

vo
m

it
in

g,
 c

he
st

 p
ai

n,
 o

r 
ab

do
m

in
al

 p
ai

n 
m

ay
 r

ep
re

se
nt

 
po

st
pe

ri
ca

rd
io

to
m

y 
sy

nd
ro

m
e 

w
it

h 
ta

m
po

na
de

 
an

d 
sh

ou
ld

 p
ro

m
pt

 im
m

ed
ia

te
 e

va
lu

at
io

n 
w

it
h 

ec
ho

ca
rd

io
gr

ap
hy

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
 2.

  A
nn

ua
l c

lin
ic

al
 f

ol
lo

w
-u

p 
is

 r
ec

om
m

en
de

d 
fo

r 
pa

ti
en

ts
 

po
st

op
er

at
iv

el
y 

if
 t

he
ir

 A
SD

 w
as

 r
ep

ai
re

d 
as

 a
n 

ad
ul

t 
an

d 
th

e 
fo

llo
w

in
g 

co
nd

it
io

ns
 p

er
si

st
 o

r 
de

ve
lo

p:
 

 (a
) 

PA
H

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
 

(b
) 

A
tr

ia
l a

rr
hy

th
m

ia
s 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 C
)

 
 (c

) 
 R

V
 o

r 
LV

 d
ys

fu
nc

ti
on

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
 

 (d
) 

 C
oe

xi
st

in
g 

va
lv

ul
ar

 o
r 

ot
he

r 
ca

rd
ia

c 
le

si
on

s 
(L

ev
el

 
of

 E
vi

de
nc

e:
 C

)
 3.

  E
va

lu
at

io
n 

fo
r 

po
ss

ib
le

 d
ev

ic
e 

m
ig

ra
ti

on
, e

ro
si

on
, 

or
 o

th
er

 c
om

pl
ic

at
io

ns
 is

 r
ec

om
m

en
de

d 
fo

r 
pa

ti
en

ts
 

3 
m

on
th

s 
to

 1
 y

ea
r 

af
te

r 
de

vi
ce

 c
lo

su
re

(c
on

ti
nu

ed
)

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



46

C
la

ss
 I

II
 1.

  I
n 

yo
un

ge
r 

pa
ti

en
ts

 w
it

h 
un

co
m

pl
ic

at
ed

 A
SD

 f
or

 
w

ho
m

 im
ag

in
g 

re
su

lt
s 

ar
e 

ad
eq

ua
te

, d
ia

gn
os

ti
c 

ca
rd

ia
c 

ca
th

et
er

iz
at

io
n 

is
 n

ot
 in

di
ca

te
d 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 B
)

 2.
  M

ax
im

al
 e

xe
rc

is
e 

te
st

in
g 

is
 n

ot
 r

ec
om

m
en

de
d 

in
 A

SD
 w

it
h 

se
ve

re
 P

A
H

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 B

)
R

ec
om

m
en

da
ti

on
s 

fo
r 

m
ed

ic
al

 t
he

ra
py

C
la

ss
 I

 1.
  C

ar
di

ov
er

si
on

 a
ft

er
 a

pp
ro

pr
ia

te
 a

nt
ic

oa
gu

la
ti

on
 is

 
re

co
m

m
en

de
d 

to
 a

tt
em

pt
 r

es
to

ra
ti

on
 o

f 
th

e 
si

nu
s 

rh
yt

hm
 if

 
at

ri
al

 f
ib

ri
lla

ti
on

 o
cc

ur
s 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 A
)

 2.
  R

at
e 

co
nt

ro
l a

nd
 a

nt
ic

oa
gu

la
ti

on
 a

re
 r

ec
om

m
en

de
d 

if
 s

in
us

 
rh

yt
hm

 c
an

no
t 

be
 m

ai
nt

ai
ne

d 
by

 m
ed

ic
al

 o
r 

in
te

rv
en

ti
on

al
 

m
ea

ns
 (

L
ev

el
 o

f 
E

vi
de

nc
e:

 A
)

R
ec

om
m

en
da

ti
on

s 
fo

r 
in

te
rv

en
ti

on
al

 a
nd

 s
ur

gi
ca

l t
he

ra
py

C
la

ss
 I

 1.
  C

lo
su

re
 o

f 
an

 A
SD

 e
it

he
r 

pe
rc

ut
an

eo
us

ly
 o

r 
su

rg
ic

al
ly

 
is

 in
di

ca
te

d 
fo

r 
ri

gh
t 

at
ri

al
 a

nd
 R

V
 e

nl
ar

ge
m

en
t 

w
it

h 
or

 
w

it
ho

ut
 s

ym
pt

om
s 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 B
)

 2.
  A

 s
in

us
 v

en
os

us
, c

or
on

ar
y 

si
nu

s, 
or

 p
ri

m
um

 A
SD

 s
ho

ul
d 

be
 r

ep
ai

re
d 

su
rg

ic
al

ly
 r

at
he

r 
th

an
 b

y 
pe

rc
ut

an
eo

us
 c

lo
su

re
 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 B
)

 3.
  S

ur
ge

on
s 

w
it

h 
tr

ai
ni

ng
 a

nd
 e

xp
er

ti
se

 in
 C

H
D

 s
ho

ul
d 

pe
rf

or
m

 o
pe

ra
ti

on
s 

fo
r 

va
ri

ou
s 

A
SD

 c
lo

su
re

s 
(L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)

 4.
  D

ev
ic

e 
er

os
io

n,
 w

hi
ch

 m
ay

 p
re

se
nt

 w
it

h 
ch

es
t 

pa
in

 o
r 

sy
nc

op
e,

 s
ho

ul
d 

w
ar

ra
nt

 u
rg

en
t 

ev
al

ua
ti

on
 (

L
ev

el
 o

f 
E

vi
de

nc
e:

 C
)

R
ec

om
m

en
da

ti
on

s 
fo

r 
pr

eg
na

nc
y

C
la

ss
 I

II
 1.

  P
re

gn
an

cy
 in

 p
at

ie
nt

s 
w

it
h 

A
SD

 a
nd

 s
ev

er
e 

PA
H

 
(E

is
en

m
en

ge
r 

sy
nd

ro
m

e)
 is

 n
ot

 r
ec

om
m

en
de

d 
ow

in
g 

to
 e

xc
es

si
ve

 m
at

er
na

l a
nd

 f
et

al
 m

or
ta

lit
y 

an
d 

sh
ou

ld
 

be
 s

tr
on

gl
y 

di
sc

ou
ra

ge
d 

(L
ev

el
 o

f 
E

vi
de

nc
e:

 A
)

Ta
bl

e 
4.

3 
(c

on
ti

nu
ed

)
J. Kochav



47

C
la

ss
 I

Ia
1.

  S
ur

gi
ca

l c
lo

su
re

 o
f 

se
cu

nd
um

 A
SD

 is
 r

ea
so

na
bl

e 
w

he
n 

co
nc

om
it

an
t 

su
rg

ic
al

 r
ep

ai
r/

re
pl

ac
em

en
t 

of
 a

 t
ri

cu
sp

id
 v

al
ve

 
is

 c
on

si
de

re
d 

or
 w

he
n 

th
e 

an
at

om
y 

of
 t

he
 d

ef
ec

t 
pr

ec
lu

de
s 

th
e 

us
e 

of
 a

 p
er

cu
ta

ne
ou

s 
de

vi
ce

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
2.

  C
lo

su
re

 o
f 

an
 A

SD
, e

it
he

r 
pe

rc
ut

an
eo

us
ly

 o
r 

su
rg

ic
al

ly
, i

s 
re

as
on

ab
le

 in
 t

he
 p

re
se

nc
e 

of
:

 
 (a

) 
 P

ar
ad

ox
ic

al
 e

m
bo

lis
m

 (
L

ev
el

 o
f 

E
vi

de
nc

e:
 C

)
 

 (b
) 

 D
oc

um
en

te
d 

pl
at

yp
ne

a-
or

th
od

eo
xi

a 
(L

ev
el

 o
f 

E
vi

de
nc

e:
 

B
)

C
la

ss
 I

Ib
 1.

  C
lo

su
re

 o
f a

n 
A

SD
, e

ith
er

 p
er

cu
ta

ne
ou

sl
y 

or
 s

ur
gi

ca
lly

, m
ay

 
be

 c
on

si
de

re
d 

in
 th

e 
pr

es
en

ce
 o

f n
et

 le
ft

-t
o-

ri
gh

t s
hu

nt
in

g,
 

pu
lm

on
ar

y 
ar

te
ry

 p
re

ss
ur

e 
le

ss
 th

an
 tw

o 
th

ir
ds

 s
ys

te
m

ic
 le

ve
ls,

 
PV

R
 le

ss
 th

an
 tw

o 
th

ir
ds

 s
ys

te
m

ic
 v

as
cu

la
r 

re
si

st
an

ce
, o

r 
w

he
n 

re
sp

on
si

ve
 to

 e
ith

er
 p

ul
m

on
ar

y 
va

so
di

la
to

r 
th

er
ap

y 
or

 te
st

 
oc

cl
us

io
n 

of
 th

e 
de

fe
ct

 (
pa

tie
nt

s 
sh

ou
ld

 b
e 

tr
ea

te
d 

in
 c

on
ju

nc
tio

n 
w

ith
 p

ro
vi

de
rs

 w
ho

 h
av

e 
ex

pe
rt

is
e 

in
 th

e 
m

an
ag

em
en

t o
f 

pu
lm

on
ar

y 
hy

pe
rt

en
si

ve
 s

yn
dr

om
es

) 
( L

ev
el

 o
f E

vi
de

nc
e:

 C
)

 2.
  C

on
co

m
it

an
t 

M
az

e 
pr

oc
ed

ur
e 

m
ay

 b
e 

co
ns

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Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



48

 Intracardiac Shunting Through Atrial Septal Defect

 1. Indications for intervention [10]:

 (a) Right atrial and RV enlargement, with or without 
symptoms (Class I)

 (b) Paradoxical embolism (Class IIa)
 (c) Documented platypnea-orthodeoxia (Class IIa)
 (d) Any defect with left-to-right shunting as long as pulmo-

nary vascular resistance (PVR) is less than two thirds of 
systemic resistance, pulmonary arterial pressures are 
less than two thirds of systemic pressures, or PVR is 
responsive to pulmonary vasodilator testing (Class IIb)

 (e) Concomitantly during open-heart surgery for a sepa-
rate lesion (Class IIa)

 2. Contraindications for intervention:

 (a) Severe irreversible pulmonary arterial hypertension 
(PAH) due to the risk of inducing right-sided pressure 
overload (Class III):

• As discussed previously, pre-procedural right heart 
catheterization with iNO may be helpful to risk stratify 
patients who might be able to tolerate defect closure.

 3. Options for intervention:

 (a) Surgical repair:

• Preferred in patients who require surgical correction 
of associated defects, such as tricuspid valve insuffi-
ciency or anomalous pulmonary venous return

• A sinus venosus defect, coronary sinus defect, or sep-
tum primum ASD must be repaired surgically by a 
surgeon with sufficient experience with these defects:

 – Superior sinus venosus repair may be compli-
cated postoperatively by the development of 
superior vena cava (SVC) stenosis and the SVC 
syndrome

J. Kochav



49

• Direct suture closure or pericardial patch closure 
can be used, depending on the size and location of 
the defect

 (b) Percutaneous repair:

• The procedure of choice for secundum defects 
with 360° of sufficient bordering rim due to an 
equivalent success rate with a reduced complica-
tion rate and hospital stay duration as compared 
to surgical repair [20]

• Currently approved devices include the Amplatzer 
septal occluder, Gore Helex, and CardioSEAL 
devices (Fig. 4.5)

• Requires follow-up echocardiogram immediately 
post- procedure and subsequently at regular inter-
vals to assess for potential complications:

 – Residual shunting
 – Device erosion/migration and/or aortic erosion
 – Thrombus formation

 Complications Specific to Repaired 
Atrioventricular Septal Defect

• Indications for reoperation in AVSD (Class I) include:

 – Left AV valve stenosis, regurgitation or prosthesis dys-
function which causes symptoms, arrhythmias, 
increased LV dimensions, or decreased LVEF

 – LVOT obstruction with a mean gradient of >50 mmHg 
or peak gradient >70 mmHg or a mean gradient 
<50 mmHg with significant Left AV valve regurgitation 
or aortic regurgitation

 – Presence of residual or recurrent ASD or ventricular 
septal defect which meet criteria for closure

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



50

a

b

Figure 4.5 (a) Transesophageal bicaval view of well-seated secun-
dum ASD closure device. (b) 3D TEE imaging of ASD closure 
device en face

J. Kochav



51

 Pulmonary Hypertension and Eisenmenger 
Syndrome

• Please see Chap. 9 for a full discussion of Eisenmenger 
syndrome

• Compared to higher-pressure shunts, such as a ventricular 
septal defect or patent ductus arteriosus, the flow across an 
ASD shunt is usually lower, and pulmonary hypertension 
will develop much more slowly. Development of 
Eisenmenger syndrome is therefore rare with pretricuspid 
shunts.

• In patients for whom ASD closure is contraindicated, due 
to irreversible PAH, medical management for pulmonary 
hypertension should be initiated.

 Arrhythmia

• Atrial fibrillation, atrial flutter, and sick sinus syndrome 
are common and should be treated in standard fashion 
with medical therapy, catheter ablation, and pacemaker 
therapy as indicated.

• Concomitant Maze procedure may be considered in patients 
with atrial fibrillation or atrial flutter (Class IIa) [8].

 Paradoxical Embolization

• With scuba diving and also during pregnancy, there is 
increased right-to-left shunting and therefore an increased 
risk of paradoxical embolization or stroke

• Patients with residual shunts should have all IV infusions 
filtered

• Paradoxical embolism is an indication for repair

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



52

 Management of Pregnancy

• Pregnancy is an absolute contraindication in patients with 
Eisenmenger syndrome due to the high risk of maternal 
mortality [21, 22]

• Pregnancy is well tolerated in patients with pretricuspid 
shunt lesions without pulmonary hypertension

• Right heart volume and pressure overload may progress 
during pregnancy in unrepaired patients (with the devel-
opment of symptoms of dyspnea or arrhythmia) due to 
increased left-to-right shunting in the setting of increased 
intravascular volume and cardiac output

• Women may be at an increased risk of paradoxical embo-
lism due to:

 – Thrombophilic state of pregnancy
 – Increased risk of right-to-left shunting due to the 

decrease in systemic vascular resistance (starting in the 
second trimester of pregnancy) and during Valsalva in 
labor.

References

 1. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, 
Correa A. Prevalence of congenital heart defects in metropoli-
tan Atlanta, 1998-2005. J Pediatr. 2008;153:807–13.

 2. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence 
of congenital heart disease worldwide: a systematic review and 
meta- analysis. J Am Coll Cardiol. 2011;58:2241–7.

 3. Rashkind WJ. Historical aspects of surgery for congenital heart 
disease. J Thorac Cardiovasc Surg. 1982;84:619–25.

 4. Murray G. Closure of defects in cardiac septa. Ann Surg. 
1948;128:843–52.

 5. Lewis FJ, Taufic M. Closure of atrial septal defects with the aid 
of hypothermia; experimental accomplishments and the report 
of one successful case. Surgery. 1953;33:52–9.

 6. King TD, Thompson SL, Steiner C, Mills NL. Secundum atrial 
septal defect. Nonoperative closure during cardiac catheteriza-
tion. JAMA. 1976;235:2506–9.

J. Kochav



53

 7. Gaggin HK, Januzzi JL. MGH Cardiology Board review book. 
London: Springer; 2014.

 8. McMahon CJ, Feltes TF, Fraley JK, et al. Natural history of 
growth of secundum atrial septal defects and implications for 
transcatheter closure. Heart. 2002;87:256–9.

 9. Craig RJ, Selzer A. Natural history and prognosis of atrial septal 
defect. Circulation. 1968;37:805–15.

 10. Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 
guidelines for the management of adults with congenital heart dis-
ease: a report of the American College of Cardiology/American 
Heart Association Task Force on Practice guidelines (writing com-
mittee to develop guidelines on the management of adults with 
congenital heart disease). Developed in collaboration with the 
American Society of Echocardiography, Heart Rhythm Society, 
International Society for Adult Congenital Heart Disease, Society 
for Cardiovascular Angiography and Interventions, and Society of 
Thoracic Surgeons. J Am Coll Cardiol. 2008;52:e143–263.

 11. Boucher CA, Liberthson RR, Buckley MJ. Secundum atrial 
septal defect and significant mitral regurgitation: incidence, man-
agement and morphologic basis. Chest. 1979;75:697–702.

 12. Liu XY, Wang J, Yang YQ, et al. Novel NKX2-5 mutations in 
patients with familial atrial septal defects. Pediatr Cardiol. 
2011;32:193–201.

 13. Garg V, Kathiriya IS, Barnes R, et al. GATA4 mutations cause 
human congenital heart defects and reveal an interaction with 
TBX5. Nature. 2003;424:443–7.

 14. Ching YH, Ghosh TK, Cross SJ, et al. Mutation in myosin heavy 
chain 6 causes atrial septal defect. Nat Genet. 2005;37:423–8.

 15. Whittemore R, Wells JA, Castellsague X. A second-generation 
study of 427 probands with congenital heart defects and their 
837 children. J Am Coll Cardiol. 1994;23:1459–67.

 16. Newbury-Ecob RA, Leanage R, Raeburn JA, Young ID. Holt-
Oram syndrome: a clinical genetic study. J Med Genet. 
1996;33:300–7.

 17. DeFaria Yeh D, King ME. Congenital heart disease in the adult: 
what should the adult cardiologist know? Curr Cardiol Rep. 
2015;17:25.

 18. Goodman DJ, Harrison DC, Cannom DS. Atrioventricular con-
duction in patients with incomplete endocardial cushion defect. 
Circulation. 1974;49:631–7.

 19. Ghoshhajra BB, Sidhu MS, El-Sherief A, et al. Adult congenital 
heart disease imaging with second-generation dual-source com-

Chapter 4. Atrial Septal Defects and Sinus Venosus Defects



54

puted tomography: initial experiences and findings. Congenit 
Heart Dis. 2012;7:516–25.

 20. Du ZD, Hijazi ZM, Kleinman CS, Silverman NH, Larntz K, 
Amplatzer I. Comparison between transcatheter and surgical 
closure of  secundum atrial septal defect in children and adults: 
results of a multicenter nonrandomized trial. J Am Coll Cardiol. 
2002;39:1836–44.

 21. Daliento L, Somerville J, Presbitero P, et al. Eisenmenger syn-
drome. Factors relating to deterioration and death. Eur Heart 
J. 1998;19:1845–55.

 22. Weiss BM, Zemp L, Seifert B, Hess OM. Outcome of pulmonary 
vascular disease in pregnancy: a systematic overview from 1978 
through 1996. J Am Coll Cardiol. 1998;31:1650–7.

J. Kochav



55© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_5

 Epidemiology

• Ventricular septal defects (VSD) are among the most com-
mon congenital heart entities in early childhood with an 
incidence of about 1 per 250–300 live births [1, 2].

• Two-thirds of VSDs close spontaneously by early school 
age [3] or are repaired in childhood; therefore, the preva-
lence is much lower in adults.

• For historical background, see Table 5.1.
• Acquired VSDs, such as post-myocardial infarction VSDs, 

will not be discussed in the chapter.

 Anatomic Definition and Pathophysiology

 1. Anatomy:

 (a) There are several types of VSDs (Figure 5.1), the most 
common being in the perimembranous region. Less 
frequently, they may be found in the inlet region at the 
level of the atrioventricular valves, the muscular 
region, or the outlet (supracristal).

Chapter 5
Ventricular Septal Defect
Jonathan Kochav

J. Kochav, M.D. ()
Massachusetts General Hospital, Boston, MA, USA

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_5&domain=pdf


56

• Supracristal (5%): Also known as type I or outlet 
defect (Video 5.1)

 – Deficiency of the septum inferior to the aortic and 
pulmonary valves

 – The aortic valve cusp (typically right or noncoronary) 
can prolapse into the VSD leading to progressive 
aortic regurgitation and occasionally sinus dilation

Table 5.1 Historical background
• In 1879 French physiologist Henri Rogers described the 

characteristic murmur and clinical findings of six acyanotic patients 
with a holosystolic murmur.  After identifying an isolated VSD in an 
autopsy of a young child, he inferred that this defect was responsible 
for their clinical picture. The isolated restricted VSD became known 
as the “maladie de Roger” and the characteristic murmur the “bruit 
du Roger” [4].

• Lellehie and Varco reported the first successful surgical VSD closure 
in 1954. The first percutaneous VSD device closure was performed 
by Lock in 1989.

Supracristal-subaortic/
subpulmonic/outlet

Membranous/perimembranous
-inferior to supracristal, and
often under septal TV leaflet

Inlet-AV septal defect

Muscular

Figure 5.1 Depiction of type of ventricular septal defects [5]

J. Kochav



57

 – This defect is more common in the Asian popula-
tion occurring in up to 30% of patients in Asian 
series [6]

• Perimembranous (60–70%): Also known as type II or 
membranous defect (Video 5.2)

 – Most common defect
 – Deficiency of the septal wall adjacent to the septal 

leaflet of the tricuspid valve on the right and aortic 
valve on the left

 – The septal leaflet of the tricuspid valve may become 
adherent to the septal wall obstructing and thereby 
limiting left-to-right shunting in some circumstances; 
a membranous septal aneurysm may develop

• Inlet (5%): Also known as type III or canal type defect 
(Video 5.3)

 – Results from deficiency of the inlet septum located 
beneath both mitral and tricuspid valves

 – Does not result in mitral or tricuspid regurgitation 
as an isolated defect but is often seen as a compo-
nent of an atrioventricular septal defect (associated 
with Down’s syndrome)

• Muscular (10%): Also known as type IV defect  
(Video 5.4)

 – Occurs due to excessive fetal muscular resorption
 – May be small or large and single or multiple
 – May occur at any area of the muscular septum
 – In adults they are generally small and restrictive
 – Spontaneous closure of these defects in children is 

quite common [3]

 2. Physiology and spectrum of disease:

 (a) A VSD results in shunting of blood from one ventricle 
to the other

 (b) Small (restrictive) defects are generally <40% of the 
size of the aortic annulus and will result in high- 
velocity, low-volume left-to-right shunting that does 
not result in left-sided volume overload

Chapter 5. Ventricular Septal Defect



58

 (c) With moderate-sized defects, the left atrium (LA) and 
left ventricle (LV) will progressively dilate due to 
increased pulmonary venous return

• The larger the defect size, the faster this process will 
progress

• Increased pulmonary blood flow over time results 
in pulmonary arteriolar medial hyperplasia that 
increases pulmonary vascular resistance (PVR), 
and significant right ventricular (RV) and pulmo-
nary arterial pressure overload may develop

• If uncorrected, this may lead to severe pulmonary 
hypertension and the potential for right-to-left flow 
reversal (Eisenmenger syndrome)

 (d) Patients with large VSDs (i.e., >80% of the size of the 
aortic annulus) can present with congestive heart fail-
ure in infancy

• If an infant is very ill and/or has a large complex 
VSD that is technically difficult to surgically repair, 
a pulmonary artery band may be placed to provide 
distal RV outflow tract obstruction and limit left-
to-right shunting

• Once the patient’s anatomy is amenable to surgical 
repair, a second operation is performed during 
which the pulmonary band is removed and the 
defect is closed

 3. Associated defects:

 (a) Most often isolated, however VSDs are a common 
component of complex abnormalities, particularly 
conotruncal (e.g., tetralogy of Fallot, transposition of 
the great arteries)

 (b) Can be associated with valvular override or straddling 
(see Chap. 1) depending on the degree of septal annu-
lar misalignment (Figure 5.2)

 (c) Defects [7]:

• Membranous ventricular septal aneurysm
• Sinus of Valsalva aneurysm (risk of rupture and 

formation of fistula)

J. Kochav



59

• Aortic valve prolapse into the VSD with aortic 
insufficiency (specifically in supracristal VSD)

• Conal septal malalignment with RV or LV outflow 
obstruction

• Double-chamber RV
• Right-sided obstruction

 – Valvular pulmonary stenosis
 – Acquired infundibular hypertrophy with right 

ventricular outflow tract obstruction

RA LA

RV LV

RA LA

RV
LV

RA LA

RV LV

Overriding without
straddling

Overriding and
straddling

Straddling without
overriding

Figure 5.2 Valvular “straddling” and “overriding” of a ventricular 
septal defect

Chapter 5. Ventricular Septal Defect



60

• Left-sided obstruction

 – Coarctation of the aorta
 – Bicuspid aortic valve
 – Discrete subaortic membrane
 – Mitral valve anomaly (such as parachute mitral 

valve)
 4. Maternal and genetic factors

 (a) VSDs are the most common lesion associated with 
many chromosomal disorders such as trisomy 13, 18 
(Edwards syndrome), and 21 (Down’s syndrome).

 (b) Parents with sporadic VSDs have an increased like-
lihood (~10%) of having offspring with CHD, 
including a VSD [8].

 Diagnostics

 Clinical Presentation in Adults

• Patients repaired earlier in life are typically asymptomatic
• Residual VSDs are usually small and hemodynamically 

restricted
• Because large nonrestricted shunts in children usually 

present clinically and are repaired, the adult presenting 
with a VSD will usually present with a small restrictive 
defect

• Adults may present with new exercise intolerance as a 
result of LV dilation due to a moderate VSD with associ-
ated left-to-right shunting

 – With age the LV becomes less compliant, LA pressures 
rise, and symptoms develop

• Young adults with large defects who have had limited 
exposure to medical care can present late into disease 
progression with severe pulmonary hypertension and 
systemic cyanosis consistent with Eisenmenger 
syndrome

J. Kochav



61

• Rarely, adults will present with a large defect that is 
restricted by a distal RV outflow tract obstruction (may be 
apical RV muscle bundle if apical muscular defect)

 Physical Exam

• Ventricular septal defect

 – Restrictive defects will produce a loud, holosystolic, 
high-pitched murmur

Augments with isometric maneuvers due to increased 
afterload on the outflow tract and therefore increased 
proportion of blood flow through the shunt

 – If RV pressure increases  as a consequence of pulmo-
nary hypertension, the duration of the murmur 
decreases, and the pitch drops

 – Small muscular septal defects may occupy only early 
systole if the defect closes with systolic contraction

 – Large defects may produce only a soft or absent mur-
mur due to laminar, nonturbulent flow

• Aortic cusp prolapse in patients with supracristal defect

 – Diastolic murmur of aortic insufficiency is best heard at 
the left lower sternal border

• Prior pulmonary banding complicated by supravalvular 
pulmonic stenosis

 – Loud systolic ejection murmur best heard over the left 
upper sternal border

• Eisenmenger exam

 – See Chap. 9 for further details on the Eisenmenger exam

 Electrocardiogram

• Patients with restrictive small VSDs may have a normal 
electrocardiogram

Chapter 5. Ventricular Septal Defect



62

• Left-sided pressure/volume overload

 – Left ventricular hypertrophy
 – Left atrial enlargement

• Right-sided pressure overload

 – Right bundle branch block
 – Right ventricular hypertrophy
 – Right axis deviation
 – Right atrial enlargement

 Chest Radiography

• Patients with restrictive small VSDs will usually have a 
normal chest radiograph

• Left-sided volume overload

 – Left atrial enlargement
 – Left ventricular enlargement

• Pulmonary hypertension

 – Prominent pulmonary artery
 – Distal pulmonary vascular pruning

 Echocardiography

• Standard 2D transthoracic echocardiography with color 
Doppler will generally make the diagnosis of a VSD

 – Color Doppler must be interrogated over the entire ven-
tricular septum, as small defects may be easily missed 
with incomplete interrogation

• Table 5.2 highlights the essentials of echocardiographic 
assessment of patients with VSDs, both pre- and post- 
complete repair

 – Transesophageal echocardiography is often necessary 
when VSD endocarditis is in question or pre-opera-
tively for surgical planning

J. Kochav



63

 Cardiac Catheterization

• Simultaneous right heart and left heart catheterization 
with oximetry can be utilized to define Qp/Qs and shunt 
fraction (see Chap. 3)

• In select cases, preoperative right heart catheterization 
with inhaled nitric oxide (iNO) may be useful to assess for 
reversibility of severe pulmonary hypertension

• A coronary evaluation is reasonable in patients with 
planned operative management who have risk of coronary 
disease because of age or other risk factors

 Advanced Imaging Techniques

• May aid in defining the anatomy of patients with apical 
muscular or inlet lesions that are not well characterized by 
echocardiography

Table 5.2 Echocardiographic essentials for assessment [9]
Native ventricular septal defect VSD: following surgical repair
• Size and location of VSD
• Direction of shunt flow; LV to RV 

shunting, LV to right atrial shunting
• Left atrial size
• LV size, mass, and function
• VSD gradient by continuous 

waveform Doppler
• Estimated RV and pulmonary 

arterial pressure from tricuspid 
regurgitation and pulmonary 
regurgitation jet velocity

• Presence and degree of RV outflow 
tract obstruction—double-chamber 
right ventricle infundibular, 
valvular, or branch PS

• Associated lesions—membranous 
septal aneurysm, aortic valve 
prolapse, or discrete subaortic 
membrane

• Residual VSD shunt
• Residual pulmonary 

hypertension
• LV dysfunction
• Tricuspid regurgitation due to 

surgical distortion of the septal 
leaflet

• Aortic valve prolapse with aortic 
insufficiency

• Aortic valve distortion and 
dysfunction due to VSD patch 
placement

• Discrete subaortic membrane 
and double- chamber right 
ventricle

Chapter 5. Ventricular Septal Defect



64

• Useful if percutaneous or surgical intervention is planned, 
or for assessment of complex associated lesions

• Cardiac MRI with phase-contrast imaging through the LV 
and RV outflow tracts can be used for defining Qp/Qs and 
shunt fraction

 Management of Adult Survivors

See Table 5.3 for summary of guidelines.

 Intracardiac Shunting Through Ventricular Septal 
Defect

• Indications for intervention [7]:

 – Qp/Qs > 2.0 with clinical evidence of LV volume over-
load (Class I)

 – A history of infective endocarditis (Class I)
 – Qp/Qs  >  1.5 with PA pressure less than two-thirds of 

systemic pressure and PVR less than two-thirds of sys-
temic vascular resistance (SVR) (Class IIa)

 – Qp/Qs >1.5  in the presence of LV systolic or diastolic 
failure (Class IIa)

• Contraindications for intervention:

 – Patients with severe irreversible pulmonary hyperten-
sion should not undergo VSD closure due to risk of 
inducing overwhelming right-sided pressure overload 
(Class III). Pre-procedural right heart catheterization 
with iNO may be helpful to risk stratify patients who 
might be able to tolerate defect closure

• Options for intervention:

 – Surgical

⚬ Patch closure with synthetic material (e.g., Gore-Tex, 
Dacron).

⚬ Primary suture closure for smaller defects.

J. Kochav



65
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in
 

pa
ti

en
ts

 a
t 

ri
sk

 f
or

 c
or

on
ar

y 
ar

te
ry

 d
is

ea
se

  
(l

ev
el

 o
f 

ev
id

en
ce

: C
)

––
 

V
SD

 a
na

to
m

y, 
es

pe
ci

al
ly

 if
 d

ev
ic

e 
cl

os
ur

e 
is

 c
on

te
m

pl
at

ed
 

(l
ev

el
 o

f e
vi

de
nc

e:
 C

)

R
ec

om
m

en
da

tio
ns

 fo
r 

su
rg

ic
al

 v
en

tr
ic

ul
ar

 s
ep

ta
l d

ef
ec

t c
lo

su
re

:
C

la
ss

 I
• 

Su
rg

eo
ns

 w
ith

 tr
ai

ni
ng

 a
nd

 e
xp

er
tis

e 
in

 C
H

D
 s

ho
ul

d 
pe

rf
or

m
 

V
SD

 c
lo

su
re

 o
pe

ra
tio

ns
 (

le
ve

l o
f e

vi
de

nc
e:

 C
)

• 
C

lo
su

re
 o

f a
 V

SD
 is

 in
di

ca
te

d 
w

he
n 

th
er

e 
is

 a
 Q

p/
Q

s 
(p

ul
m

on
ar

y-
to

-s
ys

te
m

ic
 b

lo
od

 fl
ow

 r
at

io
) 

of
 2

.0
 o

r 
m

or
e 

an
d 

cl
in

ic
al

 e
vi

de
nc

e 
of

 L
V

 v
ol

um
e 

ov
er

lo
ad

 (
le

ve
l o

f e
vi

de
nc

e:
 B

)
• 

C
lo

su
re

 o
f a

 V
SD

 is
 in

di
ca

te
d 

w
he

n 
th

e 
pa

tie
nt

 h
as

 a
 h

is
to

ry
 o

f 
in

fe
ct

iv
e 

en
do

ca
rd

iti
s 

(l
ev

el
 o

f e
vi

de
nc

e:
 C

)
C

la
ss

 I
Ia

• 
C

lo
su

re
 o

f a
 V

SD
 is

 r
ea

so
na

bl
e 

w
he

n 
ne

t l
ef

t-
to

-r
ig

ht
 s

hu
nt

in
g 

is
 p

re
se

nt
 a

t a
 Q

p/
Q

s 
gr

ea
te

r 
th

an
 1

.5
 w

ith
 p

ul
m

on
ar

y 
ar

te
ry

 
pr

es
su

re
 le

ss
 th

an
 tw

o-
 th

ir
ds

 o
f s

ys
te

m
ic

 p
re

ss
ur

e 
an

d 
PV

R
 

le
ss

 th
an

 tw
o-

th
ir

ds
 o

f s
ys

te
m

ic
 v

as
cu

la
r 

re
si

st
an

ce
 (

le
ve

l o
f 

ev
id

en
ce

: B
)

• 
C

lo
su

re
 o

f a
 V

SD
 is

 r
ea

so
na

bl
e 

w
he

n 
ne

t l
ef

t-
to

-r
ig

ht
 s

hu
nt

in
g 

is
 p

re
se

nt
 a

t a
 Q

p/
Q

s 
gr

ea
te

r 
th

an
 1

.5
 in

 th
e 

pr
es

en
ce

 o
f L

V
 

sy
st

ol
ic

 o
r 

di
as

to
lic

 fa
ilu

re
 (

le
ve

l o
f e

vi
de

nc
e:

 B
)

C
la

ss
 I

Ib
• 

D
ev

ic
e 

cl
os

ur
e 

of
 a

 m
us

cu
la

r 
V

SD
 m

ay
 b

e 
co

ns
id

er
ed

, 
es

pe
ci

al
ly

 if
 t

he
 V

SD
 is

 r
em

ot
e 

fr
om

 t
he

 t
ri

cu
sp

id
 v

al
ve

 a
nd

 
th

e 
ao

rt
a,

 if
 t

he
 V

SD
 is

 a
ss

oc
ia

te
d 

w
it

h 
se

ve
re

 le
ft

-s
id

ed
 

he
ar

t 
ch

am
be

r 
en

la
rg

em
en

t, 
or

 if
 t

he
re

 is
 P

A
H

 (
le

ve
l o

f 
ev

id
en

ce
: C

)

(c
on

tin
ue

d)

Chapter 5. Ventricular Septal Defect



66

R
ec

om
m

en
da

tio
n 

fo
r 

m
ed

ic
al

 th
er

ap
y:

C
la

ss
 I

Ib
• 

Pu
lm

on
ar

y 
va

so
di

la
to

r 
th

er
ap

y 
m

ay
 b

e 
co

ns
id

er
ed

 fo
r 

ad
ul

ts
 

w
ith

 V
SD

s 
w

ith
 p

ro
gr

es
si

ve
/s

ev
er

e 
pu

lm
on

ar
y 

va
sc

ul
ar

 d
is

ea
se

 
(r

ef
er

 to
 C

ha
pt

er
 X

X
 o

n 
pu

lm
on

ar
y 

hy
pe

rt
en

si
on

/ E
is

en
m

en
ge

r 
ph

ys
io

lo
gy

) 
(l

ev
el

 o
f e

vi
de

nc
e:

 B
)

R
ec

om
m

en
da

tio
n 

fo
r 

re
pr

od
uc

tio
n:

C
la

ss
 I

II
• 

Pr
eg

na
nc

y 
in

 p
at

ie
nt

s 
w

ith
 V

SD
 a

nd
 s

ev
er

e 
PA

H
 (

E
is

en
m

en
ge

r 
sy

nd
ro

m
e)

 is
 n

ot
 r

ec
om

m
en

de
d,

 o
w

in
g 

to
 e

xc
es

si
ve

 m
at

er
na

l 
an

d 
fe

ta
l m

or
ta

lit
y 

an
d 

sh
ou

ld
 b

e 
st

ro
ng

ly
 d

is
co

ur
ag

ed
 (

le
ve

l o
f 

ev
id

en
ce

: A
)

C
la

ss
 I

II
• 

V
SD

 c
lo

su
re

 is
 n

ot
 r

ec
om

m
en

de
d 

in
 p

at
ie

nt
s 

w
ith

 s
ev

er
e 

ir
re

ve
rs

ib
le

 P
A

H
 (

le
ve

l o
f e

vi
de

nc
e:

 B
)

R
ec

om
m

en
da

tio
ns

 fo
r 

su
rg

ic
al

 a
nd

 c
at

he
te

r 
in

te
rv

en
tio

n 
fo

llo
w

-u
p:

C
la

ss
 I

• 
A

du
lts

 w
ith

 V
SD

 w
ith

 r
es

id
ua

l h
ea

rt
 fa

ilu
re

, s
hu

nt
s, 

PA
H

, A
R

, 
or

 R
V

 o
ut

flo
w

 tr
ac

t o
r 

LV
 o

ut
flo

w
 tr

ac
t o

bs
tr

uc
tio

n 
sh

ou
ld

 b
e 

se
en

 a
t l

ea
st

 a
nn

ua
lly

 a
t a

n 
A

C
H

D
 r

eg
io

na
l c

en
te

r 
(l

ev
el

 o
f 

ev
id

en
ce

: C
)

• 
A

du
lts

 w
ith

 a
 s

m
al

l r
es

id
ua

l V
SD

 a
nd

 n
o 

ot
he

r 
le

si
on

s 
sh

ou
ld

 
be

 s
ee

n 
ev

er
y 

3 
to

 5
 y

ea
rs

 a
t a

n 
A

C
H

D
 r

eg
io

na
l c

en
te

r 
(l

ev
el

 o
f 

ev
id

en
ce

: C
)

• 
A

du
lts

 w
ith

 d
ev

ic
e 

cl
os

ur
e 

of
 a

 V
SD

 s
ho

ul
d 

be
 fo

llo
w

ed
 u

p 
ev

er
y 

1 
to

 2
 y

ea
rs

 a
t a

n 
A

C
H

D
 c

en
te

r 
de

pe
nd

in
g 

on
 th

e 
lo

ca
tio

n 
of

 th
e 

V
SD

 a
nd

 o
th

er
 fa

ct
or

s 
(l

ev
el

 o
f e

vi
de

nc
e:

 C
)

Ta
bl

e 
5.

3 
(c

on
ti

nu
ed

)
J. Kochav



67

⚬ Post-repair intraoperative transesophageal echocar-
diography should be performed to rule out addi-
tional VSDs not previously identified, as the closure 
of a large VSD may unmask smaller shunts.

⚬ Associated defects (e.g., LV outflow tract obstruction, 
RV outflow tract obstruction, aortic regurgitation) 
should be repaired as part of a combined procedure.

⚬ Postoperative heart block may occur early or late 
after surgical repair.

 – Transcatheter

⚬ Some muscular  VSDs may be closed percutane-
ously if they are remote from valvular apparatus

⚬ United States Food and Drug Administration 
approval for percutaneous closure is limited

⚬ Percutaneous closure of perimembranous VSD is 
more challenging due to the proximity of the tricus-
pid and aortic valves and the proximity to the con-
duction system.

⚬ Be useful to close residual defects after attempts at 
surgical repair, poorly accessible defects, or VSDs 
with multiple defects in close proximity.

⚬ Complications include arrhythmia and new conduc-
tion defects.

 Pulmonary Hypertension and Eisenmenger 
Syndrome

• Please see Chap. 9 for a full discussion of the Eisenmenger 
syndrome.

• VSD closure is indicated for patients in early stages of 
pulmonary hypertension or for patients with more 
advanced pulmonary hypertension that is deemed revers-
ible by right heart catheterization iNO.

• In patients for whom VSD closure is contraindicated due to 
irreversible pulmonary hypertension, medical management 
for pulmonary hypertension with pulmonary vasodilators 
should be attempted.

Chapter 5. Ventricular Septal Defect



68

 Paradoxical Embolization

• With increased right-to-left shunting, there is an increased 
risk of paradoxical embolization

• This risk increases with RV pacer or implantable cardio-
verter-defibrillator leads which should be avoided if pos-
sible in patients who have unrepaired VSD

 Infective Endocarditis Prophylaxis

• Infective endocarditis prophylaxis is indicated in many 
patients with VSD. Please see Chap. 36 for further details.

 Management of Pregnancy

• Pregnancy is an absolute contraindication in patients with 
Eisenmenger syndrome due to high risk of maternal mor-
tality [10, 11].

• Pregnancy is well tolerated in patients without pulmonary 
hypertension.

• Right heart volume and pressure overload may progress 
during pregnancy in unrepaired patients (with the devel-
opment of symptoms of dyspnea or arrhythmias) due to 
increased left-to-right shunting in the setting of increased 
intravascular volume and cardiac output.

• Women are at an increased risk of paradoxical embolism 
due to:

 – The thrombophilic state of pregnancy
 – An increased risk of right-to-left shunting secondary to 

the decrease in SVR starting in the second trimester of 
pregnancy and during Valsalva in labor

Bibliography

 1. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, 
Correa A. Prevalence of congenital heart defects in metropoli-
tan Atlanta, 1998–2005. J Pediatr. 2008;153:807–13.

J. Kochav



69

 2. van der Linde D, Konings EE, Slager MA, et al. Birth prevalence 
of congenital heart disease worldwide: a systematic review and 
meta-analysis. J Am Coll Cardiol. 2011;58:2241–7.

 3. Du ZD, Roguin N, Wu XJ. Spontaneous closure of muscular ven-
tricular septal defect identified by echocardiography in neonates. 
Cardiol Young. 1998;8:500–5.

 4. Allwork SP. Maladie du Roger 1879: a new translation for the 
centenary. Am Heart J. 1979;98:307–11.

 5. Gaggin HK, Januzzi JL Jr. Chapter 21. MGH cardiology board 
review book. New York: Springer; 2014.

 6. Ando M, Takao A.  Pathological anatomy of ventricular septal 
defect associated with aortic valve prolapse and regurgitation. 
Heart Vessel. 1986;2:117–26.

 7. Warnes CA, Williams RG, Bashore TM, et  al. ACC/AHA 
2008 guidelines for the management of adults with congenital 
heart disease: a report of the American College of Cardiology/
American Heart Association task force on practice guidelines 
(writing committee to develop guidelines on the manage-
ment of adults with congenital heart disease). Circulation. 
2008;118:e714–833.

 8. Whittemore R, Wells JA, Castellsague X. A second-generation 
study of 427 probands with congenital heart defects and their 
837 children. J Am Coll Cardiol. 1994;23:1459–67.

 9. DeFaria Yeh D, King ME. Congenital heart disease in the adult: 
what should the adult cardiologist know? Curr Cardiol Rep. 
2015;17:25.

 10. Daliento L, Somerville J, Presbitero P, et  al. Eisenmenger syn-
drome. Factors relating to deterioration and death. Eur Heart J. 
1998;19:1845–55.

 11. Weiss BM, Zemp L, Seifert B, Hess OM. Outcome of pulmonary 
vascular disease in pregnancy: a systematic overview from 1978 
through 1996. J Am Coll Cardiol. 1998;31(7):1650.

Chapter 5. Ventricular Septal Defect



71© Springer International Publishing AG,  
part of Springer Nature 2018
D. DeFaria Yeh, A. Bhatt (eds.), Adult Congenital Heart 
Disease in Clinical Practice, In Clinical Practice, 
https://doi.org/10.1007/978-3-319-67420-9_6

 Epidemiology

• Atrioventricular septal defects (AVSD) account for 
~4–5% of congenital heart disease (CHD), with a preva-
lence of about 1 per 4500 live births [1, 2].

 Anatomic Definition and Pathophysiology

 1. Anatomy and spectrum of disease:

 (a) AVSD are also termed atrioventricular canal defects 
or, in reference to the embryologic etiology, endocar-
dial cushion defects. They result from abnormal devel-
opment of the endocardial cushion at the crux of the 
heart, resulting in the absence of the atrial and ven-
tricular septum at the crux, and abnormalities of the 
atrioventricular (AV) valves (Fig. 6.1). Out of conven-

Chapter 6
Atrioventricular Septal 
Defect
Jonathan Kochav

J. Kochav, M.D. ()
Massachusetts General Hospital, Boston, MA, USA

http://crossmark.crossref.org/dialog/?doi=10.1007/978-3-319-67420-9_6&domain=pdf


72

tion, the AV valves are termed right and left AV valves 
instead of the tricuspid and mitral valves, in the pres-
ence of an AVSD.

 (i) Features shared by all forms of AVSD

• A septum primum atrial septal defect (ASD).
• AV valve leaflets insert at the same level at the cardiac 

crux as opposed to the normal relationship where the 

Common
atrium

Common
ventricle

Sinus
venosus

Common
pulmonary vein

Septum
primum

Septum
primum

Septum
primum

Ostium
primum

Ostium
primum

Endocardial
cushions

Interventricular
foramen

Interventricular
foramen

Interventricular
foramen

Ostium
secundum

Septum
secundumSVC

Pulmonary
veins

Pulmonary
veins

Ostium
secundum

RA

RA
RA

LA

LA

LA

RV

RV

a b

c d

RV

LV

LV LV

TV

MV

Sinus
venosus

Endocardial
cushions

Figure 6.1 Normal fetal cardiac development: (a) the primitive 
common atrium and ventricle. (b) the four endocardial cushions 
form at the crux of the heart. (c) the endocardial cushions grow 
toward each other, contributing to the development of the atrial and 
ventricular septa and to the seperate atrioventricular valves. (d) the 
normal fetal heart. Green colored areas represent anatomic struc-
tures formed by the endocardial cushions that are susceptible to 
malformation in atrioventricular septal defects

J. Kochav



73

tricuspid valve inserts more apically in the interven-
tricular septum (Fig. 6.2).

• Elongated left ventricular (LV) outflow tract with 
anterior displacement of the aortic valve, often referred 
to as “goose necking” of the LV outflow tract (Fig. 6.3).

• Counterclockwise rotation of the LV papillary 
muscles.

• Cleft left AV valve component, directed toward the 
ventricular septum.

 (b) AVSD lie along a continuum with isolated septum pri-
mum ASDs that do not involve the AV valves or ven-
tricular septum. AV valve involvement results in a 
common AV valve annulus that spans across both ven-

Figure 6.2 Four-chamber view (apex up) of a patient with an uncor-
rected AVSD demonstrating a large primum atrial septal defect and 
equiplanar AV valves

Chapter 6. Atrioventricular Septal Defect



74

Normal

Atrioventricular septal defect

Figure 6.3 Left ventricular outflow elongation with anterior dis-
placement of the aorta, commonly seen in patients with AVSD

J. Kochav



75

tricles. The size of the associated inlet interventricular 
defect can vary (Fig. 6.4).

 (i) Partial AVSD: Primum ASD with a cleft left AV 
valve, with the cleft directed toward the ventricu-
lar septum; distinct right and left AV valve annuli 
remain, and a ventricular septal defect (VSD) is 
not present.

 (ii) Transitional AVSD: Primum ASD with a cleft left 
AV valve. A common AV valve is divided by a 
tongue of tissue into right and left orifices. An 
inlet VSD is usually small and covered by aneu-
rysmal membraneous septal tissue.

 (iii) Intermediate AVSD: Primum ASD, a common 
AV valve divided by a tongue of tissue into right 
and left orifices, and a large hemodynamically sig-
nificant VSD.

 (iv) Complete AVSD: Primum ASD, a common AV 
valve without dividing tissue, and large hemody-
namically significant VSD.

 (c) In addition to left AV valve cleft, patients may have a 
double-orifice left AV valve, due to additional tissue 

RPV

LPV LPV LPV LPV

RPV RPV RPV

RA

LA

RV

LV

RA

LA

RV

LV

RA

LA

RV

LV

RA

LA

RV

LV

Similar physiology - large VSD & ASD Similar physiology - ASD & No/Small VSD

Complete Intermediate Transitional Partial

Similar AV valve anatomy:
A tongue of tissue divides the common AV valve
into a right and left component by connecting the
anterior and posterior “bridging” leaflets centrally

Figure 6.4 Schematic of the subtypes of atrioventricular septal 
defects

Chapter 6. Atrioventricular Septal Defect



76

that subdivides the left AV valve orifice. This results in 
decreased valve area, and mitral stenosis physiology 
(Fig. 6.5).

• The common AV valve is composed of five leaflets: 
three free-wall leaflets (two right-sided, one left- sided) 
and two bridging leaflets, with five associated papillary 
muscles.

1

2

Figure 6.5 Parasternal short axis of 3D echocardiogram image from 
a patient with a transitional atrioventricular canal defect and a 
double-orifice left AV valve, with number marking each orifice, 
(used  with permission from DeFaria Yeh D, King. Cardiovascular 
Imaging Repo (2013)6:454–466)

J. Kochav



77

 – The LV papillary muscles are rotated counterclock-
wise and sit closer together than in the usual ana-
tomic relationship, sometimes forming a “parachute” 
left AV valve with a single LV papillary muscle.

 – There can be variability in the anterior bridging leaf-
let, which is often defined using the Rastelli 
classification.

Rastelli type A: divided and attached to the crest of the 
ventricular septum with multiple chordae

Rastelli type B: Partly divided; not attached to the crest of 
the septum. Chordae attach to the right ventricular 
(RV) papillary muscle

Rastelli type C: Not divided and not attached to 
the crest of the septum (“free floating”). 
Chordae attach to the RV papillary muscle

• Unbalanced AVSD:

 – The AV valve inflow may be malaligned over the 
ventricular septum, which results in underdevelop-
ment of either the RV or LV (see Chap. 5).

 2. Physiology

 (a) Partial AVSD:

 (i) Physiology is defined by a large left-to-right atrial 
shunt with progressive RV  volume and subse-
quently pressure overload. Patients may also have 
significant left AV valvular regurgitation as a result 
of cleft left AV valve.

 (b) Transitional AVSD:

 (i) Physiology is defined by a large left-to-right atrial 
shunt and a smaller, usually restricted, left-to-right 
VSD. As in a partial AVSD, the hemodynamics are 
driven primarily by the atrial level shunt, with pro-
gressive RV  volume and subsequently pressure 
overload.

Chapter 6. Atrioventricular Septal Defect



78

 (c) Intermediate or complete AVSD:

 (i) Large left-to-right atrial and ventricular shunts 
quickly progress to pulmonary hypertension and 
congestive biventricular heart failure, usually 
requiring repair early in infancy.

 3. Associated defects:

 (a) Partial AVSD

 (i) Persistent left superior vena cava
 (ii) Coarctation of the aorta
 (iii) Patent ductus arteriosus

 (b) Complete AVSD

 (i) Tetralogy of Fallot
 (ii) Double outlet right ventricle
 (iii) Ebstein’s anomaly

 (c) LV outflow tract obstruction

 (i) More common in patients with partial AVSD.
 (ii) Can be due to the anteriorly displaced, elongated, 

and narrowed LV outflow tract.
 (iii) Can be due to subaortic membrane.
 (iv) Left AV valve chordal insertion to the ventricular 

septum can result in flow acceleration across the 
LV outflow tract, but significant obstruction from 
this defect is uncommon.

 (d) Heterotaxy syndromes

 4. Genetic or maternal factors:

 (a) AVSD is seen in patients with trisomy 21 (Down’s syn-
drome) [3].

 (i) Most complete AVSD