NEONATAL HEART DISEASE

Robert M. Freedom Leland N. Benson Jeffrey F. Smallhorn

NEONATAL HEART DISEASE

Foreword by Richard Van Praagh

With 491 Figures

Springer-Verlag London Berlin Heidelberg New York

Paris Tokyo Hong Kong Barcelona Budapest

RobertM. Freedom, MO, FRCPC, FACC LelandN. Benson, MO, FRCPC, FACC reffrey F. Smallhorn, MBBS, FRCPC

The Hospital for Sick Children, Division of Cardiology, 555 University Avenue, Toronto M5G lX8

ISBN-13: 978-1-4471-1816-9 e-ISBN-13: 978-1-4471-1814-5 001: 10.1007/978-1-4471-1814-5

Library of Congress Cataloging-in-Publication Data Freedom, Robert M.

Neonatal heart disease I Robert M. Freedom, Leland N. Benson, Jeffrey F. Smallhorn: foreword by Richard vanPraagh.

p.em. Includes index. ISBN-13: 978-1-4471-1816-9 1. Heart - Diseases. 2. Heart - Abnormalities. 3. Infants (Newborn) - Diseases. l. Benson, Leland N.

II. Smallhorn, Jeffrey F. III. Title. [DNLM: 1. Heart Defects. Congenital. 2. Heart Diseases - in infancy & children. 3. Infant, Newborn,

Diseases. WS 290 F853n] RJ269.F74 1991 618.92'12-dc20 DNLMIDLC 90-10036 for Library of Congress OP

British Library Cataloguing in Publication Data Freedom, Robert M.

Neonatal heart disease. 1. Newborn babies. Heart. Diseases l. Title II. Benson, Leland N. III. Smallhorn, Jeffrey F. 618.9212 ISBN-13: 978-1-4471-1816-9

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© Springer-Verlag London Limited 1992 Softcover reprint of the hardcover 1st edition 1992

First published 1992

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Dedication

Richard Desmond Rowe (1923-1988)

FOREWORD

As pediatric cardiology becomes more and more neonatal cardiology and even fetal cardiology, Neonatal Heart Disease by Robert M. Freedom, MO, Leland N. Benson, MD, and Jeffrey F. Smallhorn, MB is extraordinarily timely. Neonatal Heart Disease consists of 50 chapters by 25 distinguished contributors and is a worthy successor to The Neonate With Congenital Heart Disease by Richard D. Rowe, MD and his colleagues (1968 and 1981). The first ~dition of this book in 1968 established Richard D. Rowe, MD as the father of neonatal cardiology. As most pediatric cardiologists now know, Dick Rowe died on January 18, 1988 after a brief illness. It will therefore come as no surprise that the present volume is dedicated to this great and gentle man. Nor will it come as a surprise that I have been asked to devote this Foreword to Richard D. Rowe, MD, pioneering neonatal cardiologist and incomparable personal friend.

What can one say about Dick Rowe? Well, there are at least two very different tales. There is Dick Rowe the public man - the factual account of Dick Rowe's achievements as a physician, educator, and research man - the Dick Rowe that virtually "everyone" knows. And then there is Dick Rowe the private man - the extraordinary human being­who only his personal friends were privileged to know. I shall try to tell something of both stories.

First, the public man - the factual account - is really quite amazing. Born in Christchurch, New Zealand in 1923, Richard D. Rowe received his MB and ChB degrees from the University of Otago in 1946. Then came postgraduate training at the Leicester Royal Infirmary, England, the Royal Hospital for Sick Children in Edinburgh, Scotland, the Vancouver General Hospital, Canada, and finally a fellowship in pediatric cardiology under John D. Keith, MD at The Hospital for Sick Children in Toronto from 1951 to 1954. Joining the staff in 1955, Dick remained in Toronto until 1960, when he returned to the Green Lane Hospital, Auckland in his native New Zealand as a senior pediatric cardiologist. Following the retirement of Helen B. Taussig, MD in 1963, Richard D. Rowe, MD became director of the division of pediatric cardiology at the Johns Hopkins Hospital in Baltimore in 1965. With the retirement of John D. Keith, MD, Dr. Richard Rowe was invited in 1973 to return to The Hospital for Sick Children in Toronto as director of the division of cardiology, a post which he filled with distinction until 1986.

Throughout his long and very active clinical career, Dick Rowe was scientifically remarkably prolific: 254 papers, 3 textbooks, and 37 book chapters. Early in his career, he wrote two theses. Both were focused on the neonate, accurately indicating where his interests lay and presaging where he would make his mark:

1. Changes in the pulmonary hemodynamics of newborn infants, a physiological and clinical study. Royal College of Physicians and Surgeons of Canada, 1957.

2. The influence of oxygen environment and metabolic status on closure of the ductus in the neonate. MD Thesis, University of Otago, New Zealand, 1968.

Although a gifted research man, Dr. Richard Rowe, the father of neonatal cardiology, was primarily a master clinician and an incomparble cardiac catheteer.

viii FOREWORD

Second, the private man - the friend and family man - was even more remarkable. The stories of this amazing man are legion. A very special man he was: a penetrating intelligence, a wry wit, dry -like a good martini, a sparkling eye, a shattering question, endlessly hard working, and integrity that was quiet and unlimited. I will never forget having lunch with Dr. Richard Rowe at The Hospital for Sick Children in Toronto one day in 1955. He was a young staff man in cardiology and I was an intern in pediatrics. He leaned across the table, fixed me with his sparkling eyes and said, "Dick, do you really want to look after coughs, colds, and diarrhea all your life?"

This flame-thrower of a question started me thinking seriously about a career in pediatric cardiology - really a turning point in my life. Dick Rowe was a superb ambassador for pediatric cardiology, and no mean recruiter.

Perhaps the best way of filling out the personal side of this great man is to conclude with Dr. Stella Van Praagh's "letter" to Dick Rowe that she delivered at his memorial service in 1988:

"In times like these, when a very special friend is gone forever, I wish I had the talent of a poet - to intertwine my sorrow with a scene from nature and create a lasting wreath of love, which I could dedicate to the memory of the lost friend. But I am not a poet. So I wrote a short letter for Dick, and this is how it goes.

Dear Dick,

1988 was going to be the official year of your retirement. People from the four corners of the earth were eager to come and celebrate your many deeds of kindness and compassion, your many deeds of careful, honest, and meaningful research. But you wouldn't hear of it. The word went around that you threatened to take a plane going south if such a celebration were to take place. Who would ever have predicted that what you said in jest would, by the turn of Fate, become sad reality? So without you, we have gathered here today to tell each other and the world how much you meant to all of us, and how much we will miss you.

Age is weakening my memory, but there are some moments of strong impressions that become even stronger with the passage of time.

It was a late Friday afternoon. Your week's work was done and you were leaving your office when I met you in the hall. I was one of the fellows then. It was a terrible time to delay a father from going home, but I had just seen a very sick baby and I needed help in the worst way, if the baby was going to make it. So I took the courage to stop you and gave you an account of the baby's problems.

What came back from you was not just a few words of advice, to temporize. You threw your coat on a chair, grabbed your stethoscope, and said the most reassuring words I could have hoped to hear: 'Let's go see the baby!'

I have lived many moments of disappointment caused by the words or actions of various big chiefs and I would tell my Richard, 'It's such a shame that when power enters the lives of people, compassion and friendship vanish.' He would always disagree, knowing very well that he would win the argument with just four words: 'What about Dick Rowe?'

You were quite a great man, you know! In Baltimore and in Toronto, you filled the shoes of two giants - Helen Taussig and John Keith - all the way up, and more.

Life was very generous to you. It gave you a soul-mate for a wife - Bobbie, four wonderful children, and a real brother-like friend, Peter Vlad.

It also gave you lots of hardship and misunderstandIng from your fellow man, and that taught you how to understand almost everybody.

And you knew - oh how you knew - to use words that one could never forget. It was almost 26 years ago when, as one of the clinic fellows, I was checking a boy you had seen the year before. The Zebra form was written in your neat and distinctive handwriting. Apart from the answers which were meant for the computer, you wrote three words to tell the boy's story: 'Graduated with honors.' Better than a page-long deScription, they expressed his physical, mental, and emotional well-being.

FOREWORD ix

And now if all your friends here and your family grant me the privilege to give a small offering in your memory, I would like to ask them to put this plaque under your picture in this hospital:

Richard D. Rowe 1923-1988

'Graduated with honors'"

I think that Richard D. Rowe, MD, the father of neonatal cardiology, would be satisfied with Neonatal Heart Disease, and that is high praise indeed.

1991 Richard Van Praagh, MD Director, The Cardiac Registry The Children's Hospital, and

Professor of Pathology Harvard Medical School,

Boston, Massachusetts, USA

PREFACE

This textbook on neonatal heart disease was in large part inspired by the interest and contributions of the late Richard Desmond Rowe (1923-1988), head of the Division of Cardiology of The Hospital for Sick Children in Toronto from 1973 to 1986, to the body of knowledge of the newborn with heart disease both congenital and acquired. While one of us (RMF) coauthored the second edition of The Neonate with Congenital Heart Disease (Saunders, 1981), the present multiauthored textbook reflects the striking changes that have affected the discipline of pediatric cardiology in the past decade. While multiauthored and edited and primarily reflecting the clinical experience of The Hospital for Sick Children in Toronto, some contributions have been made by authorities (remote from this institution) in the etiology of congenital heart disease, epidemiology of congenital heart disease, and biology of the myocardium.

This textbook is not meant to be a general textbook of pediatric cardiovascular medicine as there are a number of excellent books currently available. Rather the mandate and indeed the challenge of this effort was to focus on the neonate with acquired and congenital heart disease, to define the morphology, clinical recognition, non-invasive and invasive diagnostic methodologies, differential diagnoses, current management strategies as they pertain to the neonate, and to comment on long-term management conundrums. Lifetable or survival data derived from this institution or from the literature are introduced into many chapters, hopefully giving the flavor of what has been accomplished in the treatment of many of the individual cardiac lesions. Dr. Rowe always reminded us that before we tum to the sophisticated imaging technologies that so dominate the specialty today that we are still fIrst and foremost physicians, and thus there is the emphasis on the clinical recognition of congenital heart defects.

We have attempted to describe not just the common lesions seen in the neonate, but to catalogue even the very rare as this is the venue of the tertiary referral center. Thus while we hope for completion, we will apologize ahead of time for any omissions that will subsequently be called to our attention.

Toronto, 1990 Robert M. Freedom Leland N. Benson

Jeffrey F. Smallhorn

ACKNOWLEDGEMENTS

The completion of a textbook is more than a sum of its parts. It reflects contributions of time and effort from many sources, often above and beyond "the call of duty". The editors and Toronto authors are particularly grateful to Mr. Alex Wright, director of the Division of Visual Education of The Hospital for Sick Children, and to Mr. Lou Scaglione of the same department for their ongoing support of this project.

The collection of electrocardiograms from all neonates over the past two years was cheerfully done by Ms. Elaine Grady, nursing unit administrator of the Heart Station and her staff. Ms. Kathy Hunter and her colleagues in the Variety Club Cardiac Cathe­terization Laboratories participate on an almost daily basis in the diagnostic aspects of this imaging modality, and we acknowledge their contributions to this effort. Mr. Haverj Mikailian as the senior radiology technician has left his mark on this project, and clearly all the angiocardiographic reproductions in this volume bear testimony to his skill and dedication to virtually all aspects of this imaging technique.

Cross-sectional echocardiography is essential to the diagnosis and management of the neonate with congenital heart disease. The Section of Echocardiography of The Hospital for Sick Children is particularly busy, and thus we are particularly thankful to the ongoing acquisition of high quality echocardiograms by Mrs. Patricia Paisley and Ms. Delores Poppe, both of whom have provided continuity of excellence in this vital area.

The acquisition of the Macintosh hardware for the Division of Cardiology was made possible by donations by friends, families, and others who have a particular interest in the pediatric patient with a cardiovascular disorder. The Michael Stuart Group Ltd. and Mr. and Mrs. Joseph and Janice Cornacchia and Bay Park Homes, Ltd., and Mr. and Mrs. Vincent and Susan Valela in particular have been most supportive of the Divisional activities, and without their personal generosity, the generosity of their company and business associates, completion of the computerization of the Division would not have been possible.

The individual contributions were formatted on Macintosh hardware and hard- and software used within the Division of Cardiology were integrated by Mr. Donald Klees of A vanet Data Corporation. The editors are most appreciative of the commitment of Mr. Klees to the activities of the Division.

Most of the heart diagrams were formatted by Mr. Cameron Finlay of the Division of Cardiology using the MacDraw programme on Macintosh hardware. The editors are most appreciative of Cam's ongoing contributions to the Division in general and this project in particular. Dr. Donald G. Perrin and Mr. Michael Starr of the Department of pathology photographed most of the cardiac specimens displayed in this text. Their contributions have been, and continue to be, very important to the academic contributions of the Division of Cardiology.

Dr. Robert H. A. Haslam, Professor of Pediatrics of the University of Toronto Faculty of Medicine and Chairman, the Department of Pediatrics of The Hospital fot Sick Children, has been and continues to be supportive of clinically-driven projects. We are most thankful for his ongoing encouragement. Similarly, we are appreciative of the spirit of cooperation between the Division of Cardiology and the Department of Radiology of The Hospital for Sick Children, and thus we would like to thank Dr. Derek Harwood-Nash, former head and Dr. Alan Daneman, present head, of the Department

xiv ACKNOWLEDGEMENTS

of Radiology of this institution. In this regard, Dr. C. A. F. Moes of the Department of Radiology and senior cardiovascular radiologist at The Hospital for Sick Children provided many of the plain chest radiographs used in this textbook, and Dr. Patricia Burrows, head of Cardiovascular Radiology also provided figures for this text. Dr. Barry Smith, head of the Divisions of Neonatology of The Hospital for Sick Children and Mount Sinai Hospital, and Dr. Jonathan Hellman, Clinical Head of Neonatology at The Hospital for Sick Children, provide the clinical and academic milieux for the care of babies with acquired and congenital heart disease, and we are delighted with the ongoing cooperation between our two units. Dr. M. J. Phillips, Professor of Pathology and Head of the Department of Pathology at The Hospital for Sick Children, has been and continues to be most supportive of the clinical and academic interface between our two services.

The editors of this textbook owe a special debt of gratitude to Dr. Gerald Graham, Medical Adviser at Springer-Verlag, who supported this project from its inception. We are particularly pleased to have interfaced with him from the beginning to the completion of this project, and we are indebted to him for his many constructive comments.

Finally, we must acknowledge the secretarial labors of Ms. Jannine Ferguson and Sandra Carbone (RMF), Ms. Tanya Cecic OFS) and Ms. Pamela Dickey (LNB) who labored so hard on this project.

CONTENTS

Contributors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. xxv

PART 1 GENERAL CONSIDERATIONS

1 Etiology of Congenital Heart Disease V. Rose and E. Clark................. . ... . . .. ...... ... . ..... . ...... . . ....... 3

Pathogenesis of Congenital Cardiac Malformations . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Ectomesenchymal Tissue Migration Abnormalities ............................ 4 Defects Associated with Abnormalities of Intracardiac Blood Flow . . . . . . . . . . . . . . . 5 Genetic and Environmental Factors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7 Genetic and Environmental Interaction - the Polygenic and Multifactorial Threshold Concept . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 13

2 Cardiovascular Malformations: Prevalence at Livebirth C. Ferencz and C. A. Neill. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19

Public Health Approaches to Disease ........................................ 19 Estimation of CVM Prevalence at Livebirth ................................... 21 The Baltimore-Washington Infant Study. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 22 Summary................................................................ 27

3 Trends in Neonatal Congenital Heart Disease: The Toronto Experience T. Izuka~andN. E. Lightfoot................................................ 31 Congenital Cardiovascular Malformations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31 Non-structural Heart Disease . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . 33

4 Developmental Biology of Mammalian Myocardium R. L. Gingell. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35

Substrate Utilization . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35 Biochemistry ............................................................. 37 Myocardial Cellular Differentiation ........................... : . . . . . . . . . . . . . . 38 Role of Oxygen Reactive Species and Antioxidant Systems. . . . . . . . . . . . . . . . . . . . . . 40 Tolerance of Adverse Metabolic Conditions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 42

5 Developmental Biology of the Pulmonary Vascular Bed M. Rabinovitch . ................................ '. . . . . . . . . . . . . . . . . . . . . . . . . . . . 45

Normal Pulmonary Vascular Development . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 45 Consequences of Hypoxic Vasoconstriction in the Fetus and Newborn . . . . . . . . . . . 46 Postnatal Pulmonary Vascular Abnormalities .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 50 Cell Culture Systems ................................... :.................. 56 Summary Hypothesis Related to the Pathogenesis of Pulmonary Hypertension ... 60

xvi CONTENTS

6 Developmental Biology of Specialized Conduction Tissue R. M. Gow and R. M. Hamilton............................................... 65 Embryology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 65 Anatomy................................................................. 66 Action Potential and Ionic Currents, . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 68 Developmental Electrophysiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 70 Developmental Changes in Ionic Channels . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 74 Antiarrhythmic Agents and the Developing Heart. . . . . . . . . . ... . . . . . . . . . . . . . . . . . 75 Conclusions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77

7 Physical Examination of the Cardiovascular System of the Neonate T. Izukawa and R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83

Condition at Delivery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83 Signs Signalling Involvement of the Cardiovascular System. . . . . . . . . . . . . . . . . . . . . 83 Auscultation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 87 Normal Cardiac Examination ............................................... 87 Abnormal Cardiac Examination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 88

8 The Electrocardiogram of the Neonate R. S. Fowler,and C. D. Finlay. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 91

The Premature Infant . . . . . . . . . . ... . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95 Enlargement and Hypertrophy Patterns. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 95 General Comments about Specific Cardiac Conditions ......................... 97

9 Imaging of the Neonate with Congenital Heart Disease P. E. Burrows, C A. F. Moes and R. M. Freedom. . . . . . .. . .. . . . . . . . . . . . . . . . . . . . . . . 101

The Chest Radiograph . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . .. .. . . . . 101 Angiography .......... ' ...... '. '. . . . . . . . . . . . . . . . . .. . . . . . . .. .. .. . . . . . . . . . . . . . . . . . . 108 Special Techniques . '. ' ..... ' .......... ' ...................... '. '... . . . . .. . . . . . . . . . 110

10 The Segmental ApproaCh to iGon,genital Heart Disease R. M. Freedom and J. F. Smallhorn . ............. ' ...... '..... . .... . . . . . . . . . . . . . . . . 119 The Cardiac Segments ....... '. ... . . . . . . . . . .... . ... ... . .. . . . . . . . . . . . . . . . . . . . . . 120 Types of Atrioventricular Connection . . . .. .. . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . .. 126 Ventriculoarterial Connection. . . . . . . . .. . . . . . . . . ... . . . . . . . . . . . . . . . . . . . . . . . . .. 129 Infundibular Anatomy ....... '. ' ........ ' ...... ' ............. '. . . . . . . . . . . . . . . . . . . . .. 130

11 Echocardiography and the Neonate with Real or Suspected Heart Disease N. N. Musewe, J. D. DyckandJ. F. Smallhorn ...... . . .. . . . .... .. . . . ...... . . .. ... 135

Advances in Equipment ............................ '.. . . . . . . . . . . . . . . . . . . . . . . 135 Role of Echocardiography in the Newborn. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 136 Pitfalls in EchocardiographicImaging-toCatheterize or Not? . . . . . . . . . . . . . . . . .. 144 Postoperative Echocardiography . . . . . .. . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . .. 146

12 The Transitional ,Circulation L. N. Benson and R. M. Freedom .... .... . ... .... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149

The Fetal Circulation. . . . . . . . . . . . . . . .. . .. . . . . . .. . . ... ...... . . . . . . . . . . . . . . . . . . . 149 Anomalies of the Heart and Circulation ...................................... 152 The Normal Transitional'Circulation . . . . . . . . . . . . . .. ... . . . . . . . . . . . . . . . . . . . . . . . 153 Clinical Findings . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . .. . . . . . . . . . . . . . . . . . . . .. 156 Abnormalities of the Transitional Circulation ................................. 157 Clinical Findings ...................... '.'..... .... ........................... 160

CONTENTS xvii

13 The Clinical Diagnostic Approach in Congenital Heart Disease L. N. Benson and R. M. Freedom .............................................. 165

Classification of Congenital Heart Disease .................................. " 165 Congestive Heart Failure . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 165 Differential Diagnosis of Heart Failure ....................................... 168 Cyanotic Lesions. . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 171 Clinical Classification. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 173

PART 2 SPECIFIC CONDITIONS

14 Transposition of the Great Arteries R. M. Freedom, J. F. Smallhorn and C. A. Trusler. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 179

Definition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 180 Morphogenesis and Morphology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 180 Commonly Associated Malformations ....................................... 181 The Coronary Arteries .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 183 Clinical Features .......................................................... 185 Medical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 189 Surgical Considerations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 196

15 Tetralogy of Fallot R. M. Freedom and L. N. Benson .............................................. 213

Morphology ........................................ '" ... '" . . . .... . . .... 214 Clinical Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 215 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 224 Surgical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 224

16 Pulmonary Atresia and Ventricular Septal Defect R. M. Freedom, J. F. Smallhorn and P. E. Burrows. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 229

Morphogenesis ........................................................... 229 Clinical Presentation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 236 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 245 Surgical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 246

17 Tetralogy of Fallot with II Absenf' Pulmonary Valve R. M. Freedom and M. Rabinovitch ............................................ 257

Etiology and Prevalence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 257 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 257 Clinical Features .......................................................... 259 Differential Diagnosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 263 Indications for Surgery in the Neonate and Outcome. . . . . . . . . . . . . . . . . . . . . . . . . .. 263

18 Tricuspid Atresia R. M. Freedom and L. N. Benson .............................................. 269

Prevalence ........................................................... '. . .. 269 Morphology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 269 Clinical Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 272 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 278 Palliative Surgery .......................................................... 279

19 Pulmonary Atresia and Intact Ventricular Septum R. M. Freedom, P. E. Burrows and J. F. Smallhorn . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 285

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 285

xviii CONTENTS

Morphogenesis ................................... . . . . . . . . . . . . . . . . . . . . . . .. 285 Morphology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 286 Clinical Presentation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 292 Medical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 302 Surgical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 302

20 Anomalies of Pulmonary Venous Connections Including Cor Triatriatum and Stenosis of Individual Pulmonary Veins N. N. Musewe, J. F. Smallhorn and R. M. Freedom ............................... 309

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 309 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 309 Embryology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 311 Physiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 313 Clinical Features .......................................................... 313 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 321 Surgery and Outcome ..................................................... 322 Cor Triatriatum .......... . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 324 Individual Stenosis of Pulmonary Veins . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 325

21 Hypoplastic Left Heart Syndrome R. M. Freedom, L. N. Benson and J. F. Smallhorn . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 333

Prevalence and Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 333 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 333 Typical Anatomical Features. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 334 Clinical Features .......................................................... 339 Differential Diagnosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 349 Rationale for Staged Surgical Intervention . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 349

22 Aortic Stenosis J. D. Dyckand R. M. Freedom Incidence and Etiology .................................................... . Morphology and Morphogenesis ........................................... . Clinical Features ......................................................... . Differential Diagnosis ..................................................... . Medical Treatment ....................................................... . Surgical Treatment ....................................................... . Supravalvar Aortic Stenosis ................................................ . Subvalvular Aortic Stenosis ................................................ .

23 Coarctation of the Aorta P. M. OlleyandN.N. Musewe Prevalence and Etiology ................................................... . Morphology and Morphogenesis ........................................... . Pathophysiology ......................................................... . Clinical Features ......................................................... . Differential Diagnosis ..................................................... . Medical Treatment ....................................................... . Surgery and Outcome .................................................... .

24 Interruption of the Aortic Arch

357

357 358 359 363 363 365 366 367

375

375 376 377 378 384 385 386

R. M. Freedom, J. F. Smallhorn and C. A. F. Moes . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . .. 391

Incidence and Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 391 Morphological Considerations . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . .. .. . . . . . . . .. 392 Clinical Features .......................................................... 394

CONTENTS xix

Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 398 Surgical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 400

25 Anomalies of the Coronary Arteries P. E. Burrows and R. M. Freedom ............................................. 405 Anomalies of the Number and Position of Coronary Arterial Ostia from the Aorta. 405 Anomalous Origin of the Coronary Arteries from the Main Pulmonary Artery. . . .. 408 Coronary Arterial Fistulae. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 419 Coronary Arterial Obstructive Lesions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 421 Congenital Coronary Artery Aneurysms ..................................... 421 The Role of Echocardiography .............................................. 421

26 Anomalies of Aortopuimonary Septation: Persistent Truncus Arteriosus, Aortopulmonary Septal Defect, and Hemitruncus Arteriosus R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 429

Persistent Truncus Arteriosus. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 429 Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 429 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 429 Clinical Features .......................................................... 433 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 438 Surgical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 440 Aortopulmonary Septal Defect. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 441 Prevalence ............................................................... 441 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 441 Clinical Features .......................................................... 442 Surgical Intervention ...................................................... 444 Hemitruncus Arteriosus. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 444 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 444 Clinical Features .......................................................... 444 Therapy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 447

27 Double-Outlet Right Ventricle R. M. Freedom and J. F. Smallhorn . .......................................... ~. 453

Definition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 453 Types of Double-Outlet Right Ventricle ...................................... 453 Clinical Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 457 Medical Treatment ........................................................ 463 Surgical Treatment Modalities .............................................. 463

28 Ebstein's Malformation of the Tricuspid Valve R. M. Freedom and L. N. Benson .............................................. 471

Anatomy of the Tricuspid Valve. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 472 Clinical Features. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 474 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 479 Surgical Therapy .... .' . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 480

29 Anomalies of Systemic Venous Connections, Persistence of the Right Venous Valve and Silent Cardiovascular Causes of Cyanosis R. M. Freedom and L. N. Benson................ . . . . . . . . ... . . . . . . ...... . . . . ... 485

Anomalies of Systemic Venous Connections . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 485 Anomalies of the Right Superior Vena Cava. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 485 Anomalies of the Left Superior Vena Cava . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 486 Anomalies of the Coronary Sinus. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 488 Anomalies of the Inferior Vena Cava. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 488

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Persistent Right Venous Valve. . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 490 Silent Cardiovascular Causes of Cyanosis and Hypoxemia . . . . . . . . . . . . . . . . . . . . .. 491

30 Hearts with a Univentricular Atrioventricular Connection R. M. Freedom and J. F. Smallhorn. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 497

Definition . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 497 Types of Univentricular Atrioventricular Connection .......................... 499 The Ventricular Septal Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 501 Physical Examination and Clinical Findings. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 508 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 515 Palliative Surgery ......................................................... 517

31 Congenitally Corrected Transposition of the Great Arteries R. M. Freedom and L. N. Benson .............................................. 523

Prevalence and Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 523 Morphology ................................ , . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 523 Clinical Features .......................................................... 527 Medical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 534 Surgical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 538

32 Syndromes of Right or Left Atrial Isomerism R. M. Freedom and J. F. Smallhorn . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 543

The Concept of Atrial and Pulmonary Symmetry . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 543 Types of Heart Malformations Identified in Patients with Right or Left Atrial Isomerism. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 545 Prevalence ............................................................... 546 Clinical Suspicion of Asplenia or Polysplenia Syndromes . . . . . . . . . . . . . . . . . . . . . .. 547 Medical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 557 Surgical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 557

33 Double-Outlet Left Ventricle; Isolated Atrioventricular Discordance; Anatomically Corrected Malposition of the Great Arteries; and Syndrome of Juxtaposition of the Atrial Appendages R. M. Freedom . ........................................... '. . . . . . . . . . . . . . . .. 561

Double-Outlet Left Ventricle. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 561 Isolated Atrioventricular Discordance (Isolated Ventricular Inversion). . . . . . . . . . .. 562 Anatomically Corrected Malposition of the Great Arteries ...................... 563 Syndrome of Juxtaposition of the Atrial Appendages. . . . . . . . . . . . . . . . . . . . . . . . . .. 566

34 Ventricular Septal Defect R. M. Freedom and L. N. Benson .............................................. 571

Prevalence ............................................................... 571 Etiology. . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 572 Pathology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 572 Clinical Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 576 Medical Management. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 587 Surgical Management. . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 588

35 Patent Ductus Arteriosus N. N. MuseweandP. M. Olley 593

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 593 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 593 Clinical Features .......................................................... 597 Investigations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 598 Medical and Surgical Therapy and Outcome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 604

CONTENTS xxi

36 Atrioventricular Septal Defect R. M. Freedom and J. F. Smallhorn. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 611

Prevalence ............................................................... 611 Morphology..... . . . . . . . . . . . . . . . . . . . . . ..... . . . . . . . . . ... . . . . .... . . . . .. . . . .. 611 Anatomic Risk Factors. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 613 Clinical Findings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 615 Medical Therapy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 624 Surgery . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 625

37 Atrial Septal Defect L. N. Benson and R. M. Freedom .............................................. 633

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 633 Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 633 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 634 Clinical Features .......................................................... 634 Investigations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 635

38 Pulmonary Valve Stenosis, Pulmonary Arterial Stenosis, and Isolated Right Ventricular Hypoplasia L. N. Benson and R. M. Freedom .............................................. 645

Pulmonary Valve Stenosis: Incidence and Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . .. 645 Morphology and Morphogenesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 646 Clinical Features .......................................................... 647 Investigations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 648 Pulmonary Arterial Stenosis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 656 Pathology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 657 Clinical Features .......................................................... 657 Isolated Right Ventricular Hypoplasia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 661

39 Supero-Inferior Ventricles, Criss-Cross Atrioventricular Connections and the Straddling Atrioventricular Valve R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 667

Supero-Inferior Ventricles. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 667 Criss-Cross Heart ......................................................... 670 Straddling Atrioventricular Valves. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 672

40 Congenital Valvular Regurgitation R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 679 Aortic Regurgitation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 679 Congenital Pulmonary Regurgitation ........................................ 681 Congenital Tricuspid Regurgitation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 681 Congenital Mitral Regurgitation. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 684

41 Myocardial Disorders L. N. Benson, G. J. Wilson and R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 693

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 694 Pathophysiologic Classification of Cardiomyopathies . . . . . . . . . . . . . . . . . . . . . . . . .. 695 Clinical Features: General Considerations .................................... 697 Metabolic Cardiomyopathies ............................................... 700 Glucose Metabolism . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 702 Glycogen Synthesis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 705 Protein Metabolism. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 706 Mitochondrial Disorders ................................................... 706 Diagnostic Evaluation of an Infant with Suspected Metabolic Cardiomyopathy . . .. 707 Specific Cardiomyopathies ................................................. 708

xxii CONTENTS

42 Cardiac Neoplasms R. M. Freedom and L. N. Benson .............................................. 723

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 723 Types and Sites of Cardiac Tumors .......................................... 723 Diagnosis in the Neonate. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . .. 724

43 Rings, Slings, and Other Things: Vascular Structures Contributing to a Neonatal "Noose" C. A. F. Moes and R. M. Freedom ............................................. 731

Embryology of the Aortic Arch System. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 731 The Most Common Vascular Rings or Slings Presenting in the Neonatal Period. . .. 734

44 Cardiac Malpositions Including Ectopia Cordis and Congenital Pericardial Defect R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 751

Dextrocardia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 751 Isolated Levocardia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 753 Ectopia Cordis . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 753 Congenital Pericardial Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 755

45 Arteriovenous Fistulae: a Consideration of Extracardiac Causes of Congestive Heart Failure N. N. Musewe, P. E. Burrows, J. A. C. Culham and R. M. Freedom. . . . . . . . . . . . . . . . .. 759

Incidence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 759 Etiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 759 Morphology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 760 Physiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 762 Clinical Features .......................................................... 763 Investigations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 766 Surgery and Outcome ............................... ~ . . . . . . . . . . . . . . . . . . . .. 769 Embolization Therapy ..................................................... 769

46 Conjoined Thoracopagus Twins R. M. Freedom, L. N. Benson and T. Izukawa . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 773

The Basic Malformation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 773 Diagnosis of Cardiac Conjunction and Site of Cardiac Fusion. . . . . . . . . . . . . . . . . . .. 774

47 Disorders of Heart Rate and Rhythm R. M. Hamilton and R. M. Cow . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 777

Incidence and Etiology. . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 777 Physiology and Pathophysiology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 777 Mechanisms of Arrhythmia ................................................. 778 Classification. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . ... . . . . . . . . . . . . . . . . .. 778 Atrioventricular Block ..................................................... 779 Supraventricular Dysrhythmias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 783 Ventricular Dysrhythmias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 790 Fetal Arrhythmias . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 794 Infant Apnea Syndrome: Cardiac Implications ................................ 795

48 Fetal Echocardiography N. N. Musewe, J. F. Smallhorn and J. D. Dyck . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 807

Indications for Fetal Cardiac Evaluation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 807 Methodology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 808

CONTENTS xxiii

Epidemiological Studies. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 809 Cardiac Anomalies Detected in Utero: Natural History. . . . . . . . . . . . . . . . . . . . . . . .. 810

49 Interventional Cardiac Catheterization in Neonates L. N. Benson, P. E. Burrows and R. M. Freedom. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 817

Balloon Atrial Septostomy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 817 Blade Atrial Septostomy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 819 Valvular Pulmonary Stenosis ............................................... 820 Valvular Aortic Stenosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 820 Coarctation of the Aorta. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 821 Pulmonary Vein Stenosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 823 Procedural Complications . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 823

50 Glossary of Congenital Cardiac Operations I. M. Rebeyka, J. G. Coles, W. G. Williams, G. A. Trusler, L. N. Benson and R. M. Freedom............................................................. 829

Cardiopulmonary Bypass and Myocardial Protection in Neonatal Surgery . . . . . . .. 830 Systemic-Pulmonary Shunts. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 831 Pulmonary Arterial Banding . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 831 Blalock-Hanlon Atrial Septectomy . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 833 Cavopulmonary (Glenn) Anastomosis ....................................... 833 Bidirectional Cavopulmonary Anastomosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 834 Patent Ductus Arteriosus. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 834 Coarctation of the Aorta. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 835 Interrupted Aortic Arch . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 837 Vascular Rings . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 838 Atrial Septal Defect . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 840 Ventricular Septal Defects. . . . . . . . . . . . . . . . . . . . . . . . . . .. . . . . . . . . . . . . . . . . . . . . .. 841 Atrioventricular Septal Defect ......... , . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 842 Critical Pulmonary Stenosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 845 Pulmonary Atresia-Intact Ventricular Septum. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 845 Tetralogy of Fallot . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 846 Congenital Aortic Stenosis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 847 Double-Outlet Right Ventricle .............................................. 850 Truncus Arteriosus . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 853 Transposition of the Great Arteries .......................................... 855 Tricuspid Atresia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 858 Total Anomalous Pulmonary Venous Drainage. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 859 Aortopulmonary Window. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 861 Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery . . . . . .. 863 Hypoplastic Left Heart Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 863

Subject Index. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 869

CONTRIBUTORS

L. N. Benson, MD, FRCPC, FACC Associate Professor of Pediatrics, The University of Toronto Faculty of Medicine, Director, Variety Club Cardiac Catheterization Laboratories, Division of Cardiology, The Hospital for Sick Children, Toronto

P. E. Burrows, MD, FRCPC Associate Professor of Radiology, The University of Toronto Faculty of Medicine, Head, Section of Cardiovascular Radiology, The Hospital for Sick Children, Toronto

E. Clark, MD Professor of Pediatrics and Head, Division of Cardiology, University of Rochester School of Medicine, Rochester, New York

]. G. Coles, MD, FRCSC Assistant Professor of Surgery, The University of Toronto Faculty of Medicine, Staff Surgeon, Division of Cardiovascular Surgery, The Hospital for Sick Children, Toronto

]. A. G. Culham, MD, FRCPC Professor of Radiology, University of British Columbia Faculty of Medicine, Staff Radiologist, Children's Hospital of British Columbia, Vancouver, British Columbia

]. D. Dyck, MD, FRCPC Assistant Professor of Pediatrics, The University of Toronto Faculty of Medicine, Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

C. Ferencz, MD, MPH Professor of Epidemiology and Preyentive Medicine and Pediatrics, University of Maryland School of Medicine, Baltimore, MD

C. D. Finlay, BSc Senior Research Technician, Division of Cardiology, The Hospital for Sick Children, Toronto

R. S. Fowler, MD, FRCPC Professor of Pediatrics, The University of Toronto Faculty of Medicine, Senior Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

R. M. Freedom, MD, FRCPC, FACC Professor of Pediatrics and Pathology, The University of Toronto Faculty of Medicine, Head, Division of Cardiology, The Hospital for Sick Children, Toronto

R. L. Gingell, MD, FACC Associate Professor of Pediatrics, The State University of New York at Buffalo, Director, Cardiac Catheterization Laboratory, The Children's Hospital of Buffalo, Buffalo, New York

R. M. Gow, MBBS, FRACP Assistant Professor of Pediatrics, The University of Toronto Faculty of Medicine, Director, Section of Electrophysiology, Division of Cardiology, The Hospital for Sick Children, Toronto

R. M. Hamilton, MD Assistant Professor of Pediatrics, The University of Toronto Faculty of Medicine, Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

T. Izukawa, MD, FRCPC Professor of Pediatrics, The University of Toronto Faculty of Medicine, Senior Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

N. E. Lightfoot, BSc, MSc, PhD Head, Cardiac Data Center and Epidemiologist Division of Cardiology, The Hospital for Sick Children, Toronto

xxvi CONTRIBUTORS

C. A. F. Moes, MD Professor of Radiology, The University of Toronto Faculty of Medicine, Senior Staff Radiologist, Department of Radiology, The Hospital for Sick Children, Toronto

N. N. Musewe, MD, FRCPC Assistant Professor of Pediatrics, The University of Toronto Faculty of Medicine, Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

C. A. Neill, MO, FRCP (London) Associate Professor of Pediatrics, The Johns Hopkins University Faculty of Medicine, The Helen B. Taussig Children's Heart Center, Baltimore, MD

P. M. Olley, MBBS, FRCPC Professor and Chairman, Department of Pediatrics, University of Alberta and University of Alberta Hospitals, Edmonton, Alberta

M. Rabinovitch, MO, FRCPC, FACC Professor of Pediatrics and Pathology, The University of Toronto Faculty of Medicine, Director, Cardiovascular Research, The Research Institute, The Hospital for Sick Children, Toronto

I. M. Rebeyka, MD, FRCSC Assistant Professor of Surgery, The University of Toronto Faculty of Medicine, Staff Surgeon, Division of Cardiovascular Surgery, The Hospital for Sick Children, Toronto

V. Rose, MD, FRCPC Professor of Pediatrics, The University of Toronto Faculty of Medicine, Director, Lipid Disorder & Vascular Disease Prevention Clinic, Senior Staff Physician, Division of Cardiology, The Hospital for Sick Children, Toronto

J. F. Smallhom, MBBS, FRACP, FRCPC Associate Professor of Pediatrics, The University of Toronto Faculty of Medicine, Director, Section of Echocardiography, Division of Cardiology, The Hospital for Sick Children, Toronto

G. A. Trusler, MD, FRCSC Professor of Surgery, The University of Toronto Faculty of Medicine, Former Head, Division of Cardiovascular Surgery, The Hospital for Si~k Children, Toronto

W. G. Williams, MD, FRCSC Professor of Surgery, The University of Toronto Faculty of Medicine, Head, Division of Cardiovascular Surgery, The hospital for Sick Children, Toronto

G. J. Wilson, MD, FRCPC Associate Professor of Pathology, The University of Toronto Faculty of Medicine, Staff Pathologist, The Hospital for Sick Children, Toronto