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GeorgiosTagarakis· AhmedGheniSarfan·
HashimTalibHashim·
JosephVarneyEditors
Clinical and Surgical
Aspects ofCongenital
Heart Diseases
Text and Study Guide
123
Clinical and Surgical Aspects of Congenital
Heart Diseases
Georgios Tagarakis • Ahmed GheniSarfan
Hashim Talib Hashim • Joseph Varney
Editors
Clinical and Surgical Aspects
of Congenital Heart Diseases
Text andStudy Guide
Editors
Georgios Tagarakis
Aristotle University of Thessaloniki
Thessaloniki, Greece
Ahmed GheniSarfan
Aarhus University
Aarhus, Denmark
Hashim Talib Hashim
University of Baghdad
Baghdad, Iraq
Joseph Varney
American University of the Caribbean School
Cupecoy, Sint Maarten (Dutch part)
ISBN 978-3-031-23061-5 ISBN 978-3-031-23062-2 (eBook)
https://doi.org/10.1007/978-3-031-23062-2
© The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
This work is subject to copyright. All rights are solely and exclusively licensed by the Publisher, whether the whole or
part of the material is concerned, specically the rights of translation, reprinting, reuse of illustrations, recitation,
broadcasting, reproduction on microlms 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 specic 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 publication. Neither the publisher nor the authors or the editors give a warranty,
expressed 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 afliations.
This Springer imprint is published by the registered company Springer Nature Switzerland AG
The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland
I want to dedicate this work:
To the most brilliant people I have ever seen, those who taught me how to be
on the right way, how to dream, how to think outside the box, and how to
believe in myself. Those who have spent their lives to put me on the top.
To my great father (Talib Hashim Manea) and my great mother
(Jawaher Mutar Mohammed).
To my brothers, sisters, and friends and to everyone who helped me
and encouraged me even with a word.
To myself, who went through a lot of difculties, issues, problems, downs
and ups, and hard times but still strong and stepping on all these tough times
to create my own times and happiness till the end of my life, In Shaa Allah.
Hashim
19-20/11/2021
H.T.H
Preface
This book talks about congenital heart diseases in both adult and children from all aspects. It
describes the disease, pathology, treatment, complications, and follow-up with details depending on the novel research and literature review. The book not only talks about the surgical and
medical treatment, but it also talks about the laparoscopic techniques that can help in the treatment. Also, it talks about the epidemiology of each disease of them and its prevalence. It
describes the genetic basis of medicine in cardiology and the diagnostic criteria for the heart
disease during pregnancy. All these topics are discussed in a scientic medical language with
appropriate illustrations and charts that make the understanding of the whole procedure easy
for all the medical doctors and healthcare workers.
This book is—to our knowledge—the rst book that vastly focuses on cardiosurgical and
medical aspects of the congenital heart diseases, emerging from the signicant need to ll a
defect in the related cardiology and surgical resource map and incorporate meaningful updates
regarding all aspects of the congenital heart diseases. Many books were dedicated to the subject over the years, but those were rather supercial, genetic, or pathological.
Clinical and Surgical Aspects of Congenital Heart Diseases: Text and Study Guide is composed of 30 chapters, containing concise and up-to-date information.
The book contains a lot of diagrams, tables, illustrations, and gures attempting to make it
more interesting and easier to memorize by readers.
More than 200 single best answer multiple choice questions (MCQs), distributed along the
chapters, covering important aspects of the congenital heart surgery and medicine, from
embryology, epidemiology, medicine, pathology, and ultimately surgery.
There are many books that the literature currently holds books discussing congenital heart
disease in detail. But these books either talk about these topics in general or are from the aspect
of internal medicine. What we have done in our book is to talk about these topics from the
surgical perspective and cover the details of congenital heart disease in a step-by-step fashion.
Moreover, we have discussed laparoscopic surgeries in treating congenital heart disease, which
has not been covered by other books or guidelines in a range of knowledge and experience as
vast as our teams. We touch on the perfusion in congenital heart surgeries, which has not been
mentioned independently in any other book that currently exists. In this book, we are presenting new, unique, and sequenced surgical guidelines in treating congenital heart disease either
in childhood or adulthood with pros and cons. Detailed ways with highly organized, attractive
graphs and photos will make this book easily understandable for medical students, surgical
residents, and surgeons alike.
Thessaloniki, Greece GeorgiosTagarakis
Aarhus, Denmark AhmedGheniSarfan
Baghdad, Iraq HashimTalibHashim
Cupecoy, Sint Maarten JosephVarney
1 September 2021
vii
Contents
Genetic Basis of Congenital Heart Disease . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Hashir Ali Awan and Irfan Ullah
Epidemiology of Congenital Heart Diseases . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 9
Mustafa Hussein Ajlan Al-Jarshawi, Ahmed Hamid Jabbar, Haitham Albadree,
Ameen Abdul Hasan Manea Al Alwany, Yousif Ali Madlul, Hiba Hussein Shaker,
and Ali Tarik Abdulwahid
Diagnosis of CHD During Perinatal Life . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Shoaib Ahmad, Ahmed Dheyaa Al-Obaidi, Abeer Mundher Ali,
and Sara Shihab Ahmad
Ventricular Septal Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21
Yassen Ayad and Ameer Almamoury
Atrial Septal Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 25
Dimitrios V. Moysidis, Eleftherios Gemousakakis, Alexandros Liatsos,
Christos Tsagkaris, and Andreas S. Papazoglou
Patent Ductus Arteriosus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Ahmed Dheyaa Al-Obaidi, Sara Shihab Ahmad, Abeer Mundher Ali,
Ali Talib Hashim, Joseph Varney, Abbas Kamil sh. Khalaf,
and Sara Osama Al-Hasani
The Coarctation of Aorta . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45
Ameer Almamoury
Truncus Arteriosus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53
Vasiliki Patsiou, Alexandra Bekiaridou, Andreas S. Papazoglou,
and Dimitrios V. Moysidis
Tricuspid Atresia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 61
Nikolaos Otountzidis and Christos Tsagkaris
Teratology of Fallot (TOF) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 69
Abbas Mohammad
Total Anomalous Pulmonary Venous Return . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87
Morad Al Mostafa
Multiple Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93
Qasim Mehmood and Irfan Ullah
Ectopia Cordis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99
Ibrahim Dheyaa Al-Hasani, Hayder Saad Salih, Ali Mohammed Hatem,
and Yousif Ahmed Hussein
ix
x
Aortic Stenosis (AS) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 105
Zanyar Qais, Kashmala Qais, and Simrenpreet Dhillon
Atrioventricular Septal Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 113
Kiran Shaq Khan and Irfan Ullah
Bicuspid Aortic Valve . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 121
Kiran Shaq Khan and Irfan Ullah
Cardiomyopathies . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131
Mohamad Dawood
Complete Heart Block (CHB) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 141
Ali Talib Hashim, Qasim Mehmood, and Shoaib Ahmad
Dextrocardia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 147
Ibad Ur Rehman, Khadija Iqbal, and Irfan Ullah
Double Inlet Left Ventricle . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .155
Ahmed Dheyaa Al-Obaidi, Abeer Mundher Ali, Sara Shihab Ahmad,
Abbas Kamil sh. Khalaf, Ali Talib Hashim, and Mohammed Qasim Mohammed
Double Outlet Right Ventricle . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 165
Mays Sufyan Ahmad
Ebstein’s Anomaly . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 171
Ahmed Dheyaa Al-Obaidi, Sara Shihab Ahmad, Abeer Mundher Ali,
and Rawaa Fadhil Al-Tofakchi
Contents
Hypoplastic Left Heart Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183
Mahnoor Sukaina and Irfan Ullah
Hypoplastic Right Heart Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 195
Lolita Matiashova, Aparajeya Shanker, Dimitrios V. Moysidis,
Andreas S. Papazoglou, and Christos Tsagkaris
Mitral Stenosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 201
Abdallah Reda, Ahmed Dheyaa Al-Obaidi, Sara Shihab Ahmad,
and Abeer Mundher Ali
Rhabdomyoma . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 209
Mustafa Najah Al-Obaidi, Ahmed Dheyaa Al-Obaidi, Shkaib Ahmad,
Abeer Mundher Ali, and Sara Shihab Ahmad
Transposition of the Great Artery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 213
Ameer Almamoury
Wolff–Parkinson–White Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 219
Aikaterini Kelepouri, Odysseas Kamzolas, Andreas S. Papazoglou,
Dimitrios V. Moysidis, and Christos Tsagkaris
Laparoscopic Surgery of Congenital Heart . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 233
Morad Al Mostafa
Perfusion in Congenital Heart Surgery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .241
Nida Hashmi, Ahmed Dheyaa Al-Obaidi, Abeer Mundher Ali,
and Sara Shihab Ahmad
Genetic Basis ofCongenital Heart
Disease
HashirAliAwan andIrfanUllah
Abstract
Most cases of congenital heart diseases (CHDs) are sporadic in nature and the exact causal mechanism is unknown,
but a genetic underpinning is strongly implicated. Genetic
variations occur spontaneously, but evidence of familial
diseases passing as recessive alleles is well-documented.
With advances in genetic analyses, copy number variations (CNVs), which changed thousands of bases consisting of coding and noncoding sequences, were suspected as
causes behind CHD.Disruption in gene dosage leads to
altered levels of crucial proteins in heart development that
are part of transcription factor families, signaling pathways, or structural proteins.
Keywords
Congenital heart defects · Genetic variations ·
Morphological defects · Congenital anomalies ·
Aneuploidy · Copy number variations · Microdeletion
Introduction
Approximately one-third of all major congenital anomalies
in newborns are congenital heart diseases (CHDs, also
referred to as congenital heart anomalies), making them the
most commonly occurring congenital disorder [1].
Some form of CHD in 2019, representing an incidence of
2305 per 100,000 live births [2]. The incidence of CHD in
the last three decades has been relatively stable, but the mortality (in both infants and adults) due to CHD has declined by
60.4% to 2.8 per 100,000 population in 2019 [2]. Due to the
H. A. Awan
Dow Medical College, Dow University of Health Sciences,
Karachi, Pakistan
I. Ullah (*)
Kabir Medical College, Gandhara University, Peshawar, Pakistan
development of medical and surgical methods to alleviate the
condition, there is a great proportion of children who are able
to survive to adulthood. Consequently, as of now, there are
more adults with CHD than children [3]. Unlike other cardiovascular disorders, no well-established preventive measures reduce the incidence (and in turn the mortality) of
CHD, and deaths can only be reduced via immediate diagnosis and surgical treatment. Therefore, owing to their weak
healthcare infrastructures, a relatively higher death rate due
to CHD is seen in countries with a low sociodemographic
index (SDI) [2].
The classication of CHDs is accomplished in various
ways. The subdivision into two broad categories of cyanotic
and non-cyanotic is based on whether right-to-left shunting
occurs and if the baby turns blue or not [4]. Another way to
divide it into major categories is to check for extracardiac
anomalies and conclude whether the CHD is isolated or syndromic (complex) [5]. However, the International Congenital
Heart Surgery Nomenclature divided CHD into four major
defects: hypoplastic, obstructive, cyanotic, and septal [5].
Starting soon after fertilization, the development of the
heart and the associated great vessels has an intricate progression consisting of different stages closely regulated by
embryonic signaling systems on a molecular level [5, 6].
While differing in severity, congenital anomalies can occur
as a result of errors at any step that adversely impact the
developmental process. Causes of these errors are manifold. The etiology of CHD can be broadly divided into
genetic and nongenetic in nature. However, the causes
behind CHD are considered to be largely multifactorial,
occurring via a contribution of both genetic vulnerabilities
and environmental inuences [3, 5]. Exposure of the mother
to teratogenic substances and agents is considered a nongenetic and environmental factor in increasing the risk of
infants to be born with heart defects. While nonsyndromic
presentation of CHD without any extracardiac involvement
has been associated with a teratogenic etiology, conrmation of a genetic origin behind some isolated heart defects
© The Author(s), under exclusive license to Springer Nature Switzerland AG 2023
G. Tagarakis et al. (eds.), Clinical and Surgical Aspects of Congenital Heart Diseases,
https://doi.org/10.1007/978-3-031-23062-2_1
1
2
H. A. Awan and I. Ullah
elucidates the possibility of genetic reasons behind both
syndromic and nonsyndromic CHD [6]. In addition, an
interesting conuence of environmental factors and the
underlying genetic makeup of a person is now increasingly
being appreciated as “epigenetics” [6].
In contrast to environmental effects, multiple epidemiological studies conclude that the key involvement in the etiology of CHD is genetic in nature [5]. Genetic causes have
been implicated after recent advances in our understanding
of genomes and variations among them [7]. Whole exome
sequencing (WES) and next-generation sequencing (NGS)
have allowed valuable insight to be gained regarding pathogenic variants causing (or associated with) CHD [3]. Various
models have been employed to illustrate the exact nature of
CHD as a genetic phenomenon. One of the earliest recognized causes behind CHD was aneuploidy, usually having a
syndromic, multisystem presentation and occurring sporadically [8]. Further studies have illustrated subchromosomal
differences in the number of copies of specic genetic
sequences, called copy number variations (CNVs), that may
sometimes be pathogenic and lead to isolated or complex
CHDs [5, 6]. CNVs can be insertions or deletions of a large
number of nucleotides and are sometimes called microdeletions or microduplications [8]. In addition, certain monogenic mutations, both inherited and occurring de novo, may
lead to congenital defects as well. These may be a result of
single nucleotide polymorphisms (SNPs) or part of an insertion or deletion (INDEL) of nucleotides [8]. Approximately
400 genes have been linked to the occurrence of
CHD. Alteration in these genes disturbs transcription factors, signaling mechanisms, and multiple other biological
processes in the body [9]. While some mutations, mostly
monogenic variations, are rare familial defects that are
inherited in a mendelian fashion, a vast majority of genetic
events leading to CHD are sporadic in nature [5, 8].
In addition to sporadic genetic events leading to CHDs,
the presence of rare familial genetic variations is tantamount
to the presence of a genetic source of CHD [5]. Autosomal
dominant, autosomal recessive, and X-linked inheritance
patterns of monogenic mutations have all been identied in
families with recurring isolated or complex cardiac defects
[6]. Furthermore, the relatively greater incidence of identied familial CHDs in regions with high consanguinity
explains the presence of recessive alleles that have more
chances of manifesting in such settings. Most studies on consanguineous unions have indicated a greater likelihood of
children developing nonsyndromic CHDs [10]. Consequently,
the risk and incidence of CHDs increase with how closely
related the parents are to each other [11]. Moreover, there is
nearly three times greater chance of both monozygotic twins
(with identical genetic makeup) having CHD than the chance
of both dizygotic (non-identical) twins [11], further showcasing the presence of recessive alleles and a genetic contri-
bution to CHD.On the other hand, the existence of dominant
alleles due to CHD has also been described. Most of the
cases occur sporadically, and mutations are hypothesized to
arise de novo without a mendelian inheritance pattern.
Dominant mutations of certain genes are generally considered to impart a more deleterious effect, and affected individuals are prone to negative evolutionary selection [5].
Since the severe phenotypic effect of these dominant alleles
may affect the viability of the fetus and also, to some extent,
dictate the probability of individuals surviving until the
reproductive age, a lower incidence of such traits is seen
recurring consecutively in offspring and running in families
in an extended pedigree [6, 8]. Therefore, it can be concluded
that a major subset of the reported cases of CHDs caused by
dominant alleles are not due to inherited mutations but rather
caused by de novo alterations in the specic genes [5, 6]. In
fact, an NGS study revealed that the prevalence of de novo
autosomal dominant variants is four times higher (8%) than
the prevalence of inherited recessive variants [3].
A challenge in accurately ascertaining the role of each
genetic variation and correlating them with one subdivision
of heart defects is the heterogeneity observed in cases of
CHD.The same genetic variant in different subjects leads to
widely varying phenotypes, depicting differing expressivity
of specic mutations even among families [6, 9]. Furthermore,
a variable penetrance of known disease-associated genetic
variants presents as individuals carrying those variants with
no defect [9]. This heterogeneity indicates the possible role
of other genetic and nongenetic factors that result in vast
diversity in disease presentation.
Aneuploidy
Aneuploidy is an abnormality in the total number of chromosomes. Aneuploidies were one of the earliest recognized
causal factors that formed a genetic basis for CHD [8]. Fetal
aneuploidy is associated with nearly one-third (33%) of all
CHD [12]. Another study estimates that one out of eight children with CHD has a chromosomal abnormality, including
aneuploidies [13]. The addition or removal of an entire chromosome causes a “bulk” gain or loss of genes [5] that invariably exerts a wide range of cardiac and extracardiac effects.
This is shown by an overwhelming 98% of fetuses with CHD
and aneuploidy showing at least one extracardiac irregularity
[12]. Furthermore, aneuploidy presumably affects viability
of fetuses as the prevalence of aneuploidy is considerably
higher in fetuses with prenatally diagnosed CHD than in
neonates born with CHD [8]. In addition, due to the relatively large size of the genetic change in aneuploidies, a targeted gene or sequence of genes cannot be accurately
determined to be responsible for cardiac anomalies [5].
Similarly, a wide range of phenotypical presentations are
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