CONGENITAL HEART DISEASE – SELECTED ASPECTS Edited by P. Syamasundar Rao Congenital Heart Disease – Selected Aspects Edited by P. Syamasundar Rao Published by InTech Janeza Trdine 9, 51000 Rijeka, Croatia Copyright © 2011 InTech All chapters are Open Access distributed under the Creative Commons Attribution 3.0 license, which allows users to download, copy and build upon published articles even for commercial purposes, as long as the author and publisher are properly credited, which ensures maximum dissemination and a wider impact of our publications. After this work has been published by InTech, authors have the right to republish it, in whole or part, in any publication of which they are the author, and to make other personal use of the work. Any republication, referencing or personal use of the work must explicitly identify the original source. 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Used under license from Shutterstock.com First published December, 2011 Printed in Croatia A free online edition of this book is available at www.intechopen.com Additional hard copies can be obtained from orders@intechweb.org Congenital Heart Disease – Selected Aspects, Edited by P. Syamasundar Rao p. cm. ISBN 978-953-307-472-6 free online editions of InTech Books and Journals can be found at www.intechopen.com Contents Preface IX Part 1 Overview of Congenital Hear Defects 1 Chapter 1 Congenital Heart Defects – A Review 3 P. Syamasundar Rao Part 2 Prevalence and Etiology 45 Chapter 2 Epidemiology and Etiology of Congenital Heart Diseases 47 Jarun Sayasathid, Kanchapan Sukonpan and Naraporn Somboonna Chapter 3 Recent Advances Concerning the Molecular Mechanism of Patent Ductus Arteriosus 85 Susumu Minamisawa and Utako Yokoyama Chapter 4 Bone Morphogenetic Protein Signaling Pathways in Heart Development and Disease 97 Cristina Harmelink and Kai Jiao Chapter 5 Molecular Mechanisms of Congenital Heart Disease 121 Jing-bin Huang and Jian Liang Chapter 6 Drosophila Model of Congenital Heart Diseases 141 Georg Vogler, Rolf Bodmer and Takeshi Akasaka Part 3 Individual Heart Defects 159 Chapter 7 Congenitally Corrected Transposition of the Great Arteries 161 English C. Flack and Thomas P. Graham VI Contents Chapter 8 Proximal Anomalous Connections of Coronary Arteries in Adults 183 Pierre Aubry, Xavier Halna du Fretay, Patrick A. Calvert, Patrick Dupouy, Fabien Hyafil, Jean-Pierre Laissy and Jean-Michel Juliard Part 4 Management of Congenital Heart Disease 231 Chapter 9 Evaluation and Emergency Treatment of Criticlly Ill Neonate with Cyanosis and Respiratory Distress 233 Emina Hadzimuratovic and Admir Hadzimuratovic Chapter 10 Fontan Surgery: Experience of One Cardiovacular Center 253 Monica Guzman, Juan Marcos Guzman and Miguel Ruz Part 5 International Issues 261 Chapter 11 Challenges in the Management of Congenital Heart Disease in Developing Countries 263 Fidelia Bode-Thomas Part 6 Miscellaneous Issues 273 Chapter 12 Myocardial Self-Repair and Congenital Heart Disease 275 Fariba Chalajour, Xiaoyuan Ma and R. Kirk Riemer Chapter 13 Accurate Measurement of Systemic Oxygen Consumption in Ventilated Children with Congenital Heart Disease 293 Jia Li Chapter 14 Myocardial Lactate Metabolism in Children with Non-Cyanotic Congenital Heart Disease 319 Toshiyuki Itoi Chapter 15 Chemical Elements and Structural/Molecular Properties of Myocardium in Infants with Transposition of Great Arteries 331 G.N. Okuneva, A.M. Karaskov, V.A. Trunova, V.V. Zvereva, Ye.E. Kliever, A.M. Volkov and Yu.A. Vlasov Preface Congenital heart defect (CHD) may be defined as an anatomic malformation of the heart or great vessels which occurs during intrauterine development, irrespective of the age at presentation. Ventricular septal defect and coarctation of the aorta are typical examples of CHDs. The reported incidence of congenital cardiac defects varies between 0.6% and 0.8% of live births. This would result in the birth of 30 to 35,000 infants with CHD each year in the United States alone. Congenital heart defects are more common than well-known congenital anomalies such as congenital pyloric stenosis, cleft lip, Down syndrome, and congenital dislocation of the hip. Nearly 50% of these babies can be managed with simple medications, observation, and follow-up without any major therapeutic intervention. However, the remaining 50%, in the past, required surgical intervention, some under cardiopulmonary bypass. Since the advent of transcatheter techniques, 50% of these babies (i.e., 25% of the total) can be managed with less invasive, percutaneous, transcatheter techniques. Developments such as early detection of the neonates with serious heart disease and their rapid transport to tertiary care centers, availability of highly sensitive noninvasive diagnostic tools, advances in neonatal care and anesthesia, progress in transcatheter interventional procedures, and extension of complicated surgical procedures to the neonate and infant have advanced to such a degree that almost all congenital cardiac defects can be diagnosed and “corrected”. The defects that could not be corrected could be effectively palliated. For achieving excellence in cardiac care, however, close interaction and collaboration of the pediatric cardiologists with neonatologists, pediatricians, general/family practitioners (who care for children with CHD), internists (who care for adults with CHD), anesthesiologists, and cardiac surgeons is mandatory. Education of physicians caring for children and adults with CHD continues to be important in achieving optimal care for the patients with heart disease. Because of vastness of the subject, all issues related to congenital heart defects cannot be discussed in their entirety and therefore, only selected aspects will be included in this book. The book is divided into several sections, which include an overview of congenital heart defects, prevalence and etiology, some individual heart defects, management of some of the congenital heart defects, international issues, and miscellaneous issues. While there are significant advances in the understanding X Preface molecular mechanisms of cardiac development and of the etiology of CHD, these have not progressed to such a degree so as to be useful in preventing CHD at this time. Consequently, several chapters were devoted to this subject. In the first section on the overview of congenital heart defects, I present a brief review of incidence, etiology and classification of CHD, and an overview of the nine most common congenital cardiac anomalies and their management. The exact etiology of CHD is not known, and the majority of cardiac defects can be explained by multifactorial inheritance hypothesis. The CHD may be classified as acyanotic and cyanotic defects, the former being further divided into obstructive and left-to-right shunt lesions. Pathologic, physiologic, clinical, and laboratory features of the nine most common CHD were distinctively described. Methods of management for each of these defects include transcatheter techniques for most of the acyanotic defects and by and large surgery for the cyanotic defects. Based on this review, it appears that while the etiology of CHD is not clearly identified, their recognition by clinical evaluation and non-invasive laboratory tests is possible, and their treatment with currently available transcatheter and surgical methods is feasible, effective, and safe. In the next section on prevalence and etiology, Sayasathid and Associates from Naresuan University, Thailand, discuss epidemiology and etiology of CHD including preventative guidelines for pregnant mothers. They suggest that the number of patients with CHD continues to increase, and that epidemiology studies reveal that cases of CHD are underestimated. Huang and Liang of Guangxi Traditional Chinese Medical College in Nanning, China explore molecular mechanisms of congenital heart disease. The authors review normal cardiac development and recent discoveries of the genetic causes of CHD. They provide possible strategies for exploring these new developments to improve understanding of the genetic basis of CHD. They support the use of animal biomedical models to understand normal and abnormal function from gene to phenotype, and to provide a basis for preventive or therapeutic intervention in human diseases. In the next chapter, Minamisawa and Yokoyama from Waseda University, Japan, present recent advances in the molecular mechanism of patent ductus arteriosus (PDA). The authors describe acute and functional closure of the ductus, and discuss complex molecular mechanisms involved in ductal closure. The remodelling is reviewed, which includes the differentiation of vascular smooth muscle cells (SMCs) and endothelial cells, accumulation of extracellular matrix, vascular SMC migration into the sub endothelial region, impaired elastogenesis, and eventually fibrotic changes due to apoptosis and necrosis. The role of PGE2-EP4-cAMP signal pathway, oxygen, and calcium channels. Multiple vasoreactive stimulations in the modulator of vascular remodelling of the ductus arteriosus is also discussed. The authors conclude that this knowledge may help develop novel therapeutic strategies for patients with PDA and ductal dependent cardiac anomalies. Harmelink and Jiao of the University of Alabama in Birmingham, USA, describe bone morphogenetic protein (BMP) signaling pathways in heart development and disease. They review evidence from multiple experimental models that demonstrates the role of BMP signaling pathways in the heart development. Initially, they describe normal heart development [...]... appears to have causative association with heart defects Significantly higher incidence of serologic evidence for Coxsackie B virus infection 4 Congenital Heart Disease – Selected Aspects during pregnancy in mothers of infants with congenital heart defects than in matchedcontrol women suggested causative relationship between Coxsackie B infection and congenital heart defects, but this evidence is neither... problems encountered in the diagnosis, treatment, and prevention of congenital heart diseases in the developing countries The author initially points out that there is a paucity of data on the incidence or birth prevalence of congenital heart disease in most developing countries This under-estimates the burden of congenital heart disease, undermining arguments for more resource allocation in the face... adults with congenital heart defects, helping them provide optimal care for their patients P Syamasundar Rao, MD, FAAP, FACC, FSCAI University of Texas at Houston Medical School Houston, Texas, USA XIII Part 1 Overview of Congenital Hear Defects 1 Congenital Heart Defects – A Review P Syamasundar Rao University of Texas at Houston Medical School, Houston USA 1 Introduction Congenital heart defect... between grades II-V/VI; the intensity is not necessarily related to the severity of the stenosis 6 Congenital Heart Disease – Selected Aspects Fig 1 Auscultatory diagrams of systolic murmurs Ejection systolic murmur (top) begins shortly after the first heart sound (S1) and ends shortly before the second heart sound (A2, aortic component and P2, pulmonary component) whereas a holosystolic murmur (bottom)... may show a normal sized heart or the heart may be mildly enlarged Other roentgenographic features include a "3" sign on a highly penetrated chest x-ray, inverted "3" sign of the barium filled esophagus and rib-notching (secondary to collateral vessels) 4.3.3.2 Electrocardiogram The ECG may be normal or may show left ventricular hypertrophy 14 Congenital Heart Disease – Selected Aspects 4.3.3.3 Echocardiogram... most likely to be pathogenetic mechanism of congenital heart defects Calculations based on this hypothesis predict the frequency of occurrence of the disease in first degree relatives to be square root of its frequency in the population; this fits the congenital heart disease figures (Nora 1968) A variety of factors have statistical association with certain heart defects and these may be termed risk... chapter Incidence of congenital heart defects The reported incidence of congenital cardiac defects varies between 0.47 to 1.17% of live births, but 0.6% to 0.8% of live births is considered typical This would result in birth of 25,000 to 35,000 infants with CHD each year in the United States alone Congenital heart defects are more common than well-known congenital anomalies such as congenital pyloric... diameter of the balloon 16 Congenital Heart Disease – Selected Aspects should be two or more times the size of the coarcted segment, but no larger than the diameter of the descending aorta at the level of diaphragm The immediate (Figures 8) and intermediate-term results of balloon coarctation angioplasty have been good although longterm follow-up is limited (Rao 1999) 5 Ayanotic heart defects: Left-to-right... also cause aortic valve obstruction Dysplasia of the aortic valve leaflets with or without hypoplasia of the valve ring may be found in neonates and young infants Calcification of 10 Congenital Heart Disease – Selected Aspects the aortic valve leaflets so frequent in the elderly is uncommon during childhood Dilatation of ascending aorta, post-stenotic dilatation, is seen in most cases, and the extent... consensus with regard to the choice of treatment mode When surgical commissurotomy is chosen it is usually performed on cardiopulmonary bypass When balloon valvuloplasty is performed, a 12 Congenital Heart Disease – Selected Aspects balloon diameter size 80% to 100% of the size of the aortic valve annulus is chosen for valvuloplasty (Rao 1990) Immediate, short-term and long-term results following balloon . CONGENITAL HEART DISEASE – SELECTED ASPECTS Edited by P. Syamasundar Rao Congenital Heart Disease – Selected Aspects Edited by P. Syamasundar. evidence for Coxsackie B virus infection Congenital Heart Disease – Selected Aspects 4 during pregnancy in mothers of infants with congenital heart defects than in matched- control women. of Congenital Hear Defects 1 Chapter 1 Congenital Heart Defects – A Review 3 P. Syamasundar Rao Part 2 Prevalence and Etiology 45 Chapter 2 Epidemiology and Etiology of Congenital Heart Diseases