This 2nd edition has been extensively updated and provides comprehensive and current insight into congenital heart diseases, from embryonic development through to clinical features, including human genetics and our current knowledge of the underlying molecular pathways.

The book is divided into three parts: an introduction to the development of the heart and its vessels, an overview of the molecular pathways affecting the development of various cardiovascular structures, and a main section focusing on the different types of structural and nonstructural congenital heart diseases, including their clinical features, underlying genetic alterations and insights from animal models and pathways.

All chapters have been updated and new chapters added on state-of-the-art approaches including stem cells and organoids, cardiac metabolism, single cell transcriptomics and 3D reconstruction of human heart development.

The clinical chapters have been extended and include new sections on diagnostic imaging techniques.

Taken together, the book, written by and for clinicians and researchers, provides an integrated and up-to-date resource for all those who want to learn more about both the clinical aspects and the genetic and molecular basis of congenital heart disease.



Part I. Introduction

01. Human Cardiac Development
02. Human Genetics of Congenital Heart Defects
03. Cardiac Development and Animal Models of Congenital Heart Defects
04. Normal Cardiac Anatomy and Clinical Evaluation

Part II. Development of the Heart and Its Vessels

05. Cardiac Progenitor Cells of the First and Second Heart Fields
06. Neural Crest
07. Inflow Tract Development
08. Epicardium and Coronary Vessels
09. Establishment of Cardiac Laterality
10. Development of the Cardiac Conduction System
11. Hemodynamics During Development and Postnatal Life
12. Evolutionary Aspects of Chamber Formation and Septation
13. Deciphering Congenital Heart Disease Using Human Induced Pluripotent Stem Cells
14. Cardiac Development at a Single-Cell Resolution

Part III. Central Molecular and Cellular Pathways

15. Inter- and Intracellular Signaling Pathways
16. Cardiac Transcription Factors and Regulatory Networks
17. Posttranscriptional Regulation by Proteins and Noncoding RNAs
18. Epigenetics
19. Cardiac Metabolism
20. Environmental Signals
21. The Contractile Machines of the Heart
22. Technologies to Study Genetics and Molecular Pathways

Part IV. Atrial Septal Defect

23. Clinical Presentation and Therapy of Atrial Septal Defect
24. Human Genetics of Atrial Septal Defect
25. Molecular Pathways and Animal Models of Atrial Septal Defect

Part V. Ventricular Septal Defect

26. Clinical Presentation and Therapy of Ventricular Septal Defect
27. Human Genetics of Ventricular Septal Defect
28. Ventricular Septal Defects: Molecular Pathways and Animal Models

Part VI. Atrioventricular Septal Defect

29. Clinical Presentation and Therapy of Atrioventricular Septal Defect
30. Human Genetics of Atrioventricular Septal Defect
31. Molecular Pathways and Animal Models of Atrioventricular Septal Defect

Part VII. Total Anomalous Pulmonary Venous Return

32. Clinical Presentation and Therapy of Total Anomalous Pulmonary Venous Return
33. Total Anomalous Pulmonary Venous Connections, Human Genetics
34. TAPVR: Molecular Pathways and Animal Models

Part VIII. Tetralogy of Fallot and Double Outlet Right Ventricle

35. Clinical Presentation and Therapy of Tetralogy of Fallot and Double-Outlet Right Ventricle
36. Human Genetics of Tetralogy of Fallot and Double-Outlet Right Ventricle
37. Molecular Pathways and Animal Models of Tetralogy of Fallot and Double Outlet Right Ventricle

Part IX. d-Transposition of the Great Arteries

38. Clinical Presentation and Therapy of d-Transposition of the Great Arteries
39. Human Genetics of d-Transposition of Great Arteries
40. Molecular Pathways and Animal Models of d-Transposition of the Great Arteries

Part X. Defects of Situs

41. Clinical Presentation and Therapy of Anomalies of the Situs
42. Human Genetics of Defects of Situs
43. Molecular Pathways and Animal Models of Defects in Situs

Part XI. Semilunar Valve and Aortic Arch Anomalies

44. Clinical Presentation and Therapy of Semilunar Valve and Aortic Arch Anomalies
45. Human Genetics of Semilunar Valve and Aortic Arch Anomalies
46. Molecular Pathways and Animal Models of Semilunar Valve and Aortic Arch Anomalies

Part XII. Coronary Artery Anomalies

47. Clinical Presentation and Therapy of Coronary Artery Anomalies
48. The Genetics of Human Congenital Coronary Vascular Anomalies
49. Congenital Coronary Blood Vessel Anomalies: Animal Models and the Integration of Developmental Mechanisms

Part XIII. Truncus Arteriosus

50. Clinical Presentation and Therapy of Truncus Arteriosus
51. Human Genetics of Truncus Arteriosus
52. Molecular Pathways and Animal Models of Truncus Arteriosus

Part XIV. Tricuspid Atresia and Univentricular Heart

53. Clinical Presentation and Therapy of Tricuspid Atresia and Univentricular Heart
54. Human Genetics of Tricuspid Atresia and Univentricular Heart
55. Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart

Part XV. Ebstein Anomaly

56. Clinical Presentation and Therapy of Ebstein Anomaly
57. Human Genetics of Ebstein Anomaly
58. Molecular Pathways and Animal Models of Ebstein’s Anomaly

Part XVI. Hypoplastic Left Heart Syndrome

59. Clinical Presentation and Therapy of Hypoplastic Left Heart Syndrome
60. Human Genetics of Hypoplastic Left Heart Syndrome
61. Molecular Pathways and Animal Models of Hypoplastic Left Heart Syndrome

Part XVII. Cardiomyopathies

62. Clinical Presentation and Therapy of Cardiomyopathies
63. Human Genetics of Cardiomyopathies
64. Molecular Pathways and Animal Models of Cardiomyopathies

Part XVIII. Arrhythmias

65. Clinical Presentation and Therapy of Arrhythmias
66. Human Genetics of Cardiac Arrhythmias
67. Molecular Pathways and Animal Models of Arrhythmias

Back Matter