Fetal Cardiology

Embryology, Genetics, Physiology, Echocardiographic Evaluation, Diagnosis, and Perinatal Management of Cardiac Diseases, Third Edition

Simcha Yagel, Norman H. Silverman, Ulrich Gembruch, Simcha Yagel, Norman H. Silverman, Ulrich Gembruch

• Publisher: CRC Press
• Year: 2018
• Print ISBN: 9781498771764
• eBook ISBN: 9780429865732
• Edition: 3
• Topic: Medicine
• Subtopic: Gynecology, Obstetrics & Midwifery

The third edition of this established reference is the product of the combined efforts of many professionals – obstetricians, pediatric cardiologists, sonographers, molecular biologists, and medical physicists – and is a comprehensive guide intended for anyone interested in scanning the fetal cardiac system.

1

Cardiac morphogenesis

Adriana C. Gittenberger-de Groot, Monique R.M. Jongbloed, Marco C. de Ruiter, Margot M. Bartelings, and Robert E. Poelmann

Introduction

Cardiovascular development and the regulatory mechanisms underlying this major embryonic event have become essential knowledge for the fetal cardiologist. The increased potential of ultrasound technology to detect morphology of the growing heart requires more insight into the morphogenetic and epigenetic pathways essential for normal and abnormal development. This area is now expanding with the possibilities of acquiring data from patients by human exome screening, transcriptome analysis, single nuleotide polymorphism (SNIP) technology, and chromatin remodeling.1–3 It is essential to link these genetic, epigenetic, and environmental clues from patient material to advance our understanding of the complicated interactive processes that govern heart development. The crucial processes in human cardiac development take place within the first 6 weeks of embryogenesis and, as such, cannot be pursued using in vivo diagnostics. It is, therefore, still imminent that essential knowledge is incorporated from animal models such as (transgenic) mouse, chicken, and, more recently, zebrafish, as basic principles of heart formation can be compared between various animal models and human development, even profiting from an evolutionary-developmental approach.4,5 One has to take into account, however, important species differences such as, for instance, a double-sided aortic arch in fish and reptiles, a right-sided aortic arch system in birds, as compared to a left-sided system in mammals,6 a persisting left-sided caval vein in mice, and the lack of cardiac septation in fish and many reptiles with only a two- or three-chambered heart tube as a final result. The influence of hemodynamics on the developing system has long been underestimated or neglected because of insufficient refined technology to study this in vivo in the developing embryo. Currently, newly designed techniques including microparticle image velocimetry have opened up this research field.7,8 For the fetal cardiologist, particle image velocimetry is a very interesting new development, as noninvasive techniques such as echo-Doppler add physiologic insight to morphology.

The various converging fields of research have sometimes resulted in a confusing use of terminology, which is not easily solved,9 and which will undoubtedly continue with future new discoveries. This chapter describes in brief the major events in cardiac development.10 There is a focus specifically on the continuous recruitment of myocardium from the second heart field11,12 and on extracardiac cellular contributions13 to the heart and their modulatory role.14 Genetic and epigenetic causal pathways will be briefly discussed. (For all abbreviations of genes and gene products, see Table 1.1; for all embryological and anatomical abbreviations, see Table 1.2.)

Table 1.1Mentioned genes and gene products

14-3-3 epsilon: Eluted in the 14th fraction on positions 3.3

Actc: Cardiac muscle α actin

Acvr2b: Activin A receptor type B

Alk2: Activing receptor-like kinase

BMP: Bone morphogenetic protein

CHD7: Chromodomain helicase DNA binding protein 7

Cited2: cbp/300-interacting transactivator 2

DSCAM: Down syndrome cell adhesion molecule

eNOS: Endothelial nitric oxide synthase

ET1: Endothelin-1

FGF: Fibroblast growth factor

GATA: Transcription factors binding to the GATA sequence

GJA1: Gap junction α-1 protein

HAND2: Heart and neural crest derivatives

HCN4: Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4

Isl1: Insulin gene enhancer protein 1

Irx4: Iroquois homeobox protein

KLF2: Krüppel-like factor-2

Lrp2: Low-density lipoprotein-related protein-2

Mef2c: Myocyte-specific enhancer factor

MHC: Myosin heavy chain

MYH 6,7:...

Table of contents

• Cover
• Half Title
• Series Page
• Title Page
• Copyright Page
• Dedication
• Contents
• Preface
• List of contributors
• 1. Cardiac morphogenesis
• 2. Cardiac anatomy and examination of specimens
• 3. Placental implantation and development
• 4. Placental circulations
• 5. Technical advances in fetal echocardiography
• 6. Epidemiology of congenital heart disease: Etiology, pathogenesis, and incidence
• 7. Indications for fetal echocardiography: Screening in low- and high-risk populations
• 8. Circulation in the normal fetus and cardiovascular adaptations to birth
• 9. Development of fetal cardiac and extracardiac Doppler flows in early gestation
• 10. Examination of the normal fetal heart using two-dimensional echocardiography
• 11. The three vessel and tracheal view
• 12. First and early second trimester fetal heart screening
• 13. Four-dimensional ultrasound examination of the fetal heart using spatiotemporal image correlation (STIC)
• 14. Three- and four-dimensional ultrasound in fetal echocardiography: A new look at the fetal heart
• 15. Magnetic resonance imaging: Techniques and normal fetal cardiovascular physiology
• 16. Magnetic resonance imaging: Abnormalities of the fetal circulation
• 17. Abnormal visceral and atrial situs and congenital heart disease
• 18. Cardiac malpositions and syndromes with right or left atrial isomerism
• 19. Pulmonary vein anomalies
• 20. Ebstein malformation and tricuspid valve pathology
• 21. Intracardiac shunt malformations
• 22. Atrioventricular septal defect (“atrioventricular canal”)
• 23. Double-inlet ventricle
• 24. Lesions of the right heart
• 25. Ventricular outflow tract anomalies (“conotruncal anomalies”)
• 26. Tetralogy of Fallot
• 27. Double-outlet right ventricle
• 28. Truncus arteriosus
• 29. Transposition of the great arteries
• 30. Left heart malformations
• 31. Aortic arch anomalies
• 32. Coarctation of the aorta and interrupted aortic arch
• 33. Diseases of the myocardium, endocardium, and pericardium during fetal life and cardiomyopathy in the fetus
• 34. Ultrasound examination of the fetal coronary circulation
• 35. The fetal venous system: Normal embryology, anatomy, and physiology and the development and appearance of anomalies
• 36. Fetal cardiac tumors
• 37. The fetal thymus
• 38. Extracardiac Doppler investigation in fetuses with congenital heart disease
• 39. Electrophysiology for the perinatologist
• 40. Fetal bradycardia
• 41. Fetal tachyarrhythmia
• 42. Cardiac diseases in association with hydrops fetalis
• 43. Congestive heart failure in the fetus
• 44. Twin-twin transfusion syndrome: Impact on the cardiovascular system
• 45. Fetal interventions for congenital heart disease
• 46. Doppler evaluation in fetal growth restriction
• 47. Venous flow dynamics: Intrauterine growth restriction and cardiac decompensation
• 48. Evaluation of fetal cardiac function: Techniques and implications
• 49. Genetics and cardiac anomalies
• 50. Cardiac defects in chromosomally abnormal fetuses
• 51. Associated anomalies in congenital heart disease
• 52. Chromosome microarray analysis of the fetal heart
• 53. Congenital cardiovascular malformations and the fetal and neonatal circulation
• 54. Intrapartum evaluation of fetal well-being
• 55. Intrapartum and delivery room management of the fetus with congenital heart disease
• 56. The neonate with congenital heart disease: Medical and interventional management
• 57. Infants with congenital heart disease in the first year of life
• 58. Neurodevelopment in congenital heart disease: Intrauterine Doppler and fetal and neonatal magnetic resonance imaging
• 59. Postnatal neurodevelopment in congenital heart disease: Short- and long-term neurodevelopment and interventions
• 60. Genetic counseling in families with congenital heart defects
• 61. Cardiac disease in pregnancy
• 62. Maternal diseases and therapies affecting the fetal cardiovascular system
• Index