Congenital Heart Diseases: The Broken Heart

Clinical Features, Human Genetics and Molecular Pathways

  • Silke Rickert-Sperling
  • Robert G. Kelly
  • David J. Driscoll

Table of contents

  1. Front Matter
    Pages i-xxx
  2. Introduction

    1. Front Matter
      Pages 1-1
    2. David J. Driscoll
      Pages 11-21
  3. Development of the Heart and Its Vessels

    1. Front Matter
      Pages 23-23
    2. Margaret Buckingham
      Pages 25-40
    3. Bijoy Thattaliyath, Mary Hutson
      Pages 41-53
    4. Andy Wessels
      Pages 55-62
    5. José C. Martín-Robles, José M. Pérez-Pomares
      Pages 63-70
    6. George C. Gabriel, Cecilia W. Lo
      Pages 71-81
    7. Rajiv Mohan, Vincent M. Christoffels
      Pages 83-95
    8. Bjarke Jensen, Antoon F. M. Moorman
      Pages 109-117
  4. Central Molecular Pathways

    1. Front Matter
      Pages 119-119
    2. Jörg Heineke
      Pages 121-137
    3. Marcel Grunert, Cornelia Dorn, Silke Rickert-Sperling
      Pages 139-152
    4. Amelia E. Aranega, Diego Franco
      Pages 153-171
    5. Jun Wang, Robert J. Schwartz
      Pages 173-202
    6. Rajan Jain, Mudit Gupta, Jonathan A. Epstein
      Pages 203-221
    7. George A. Porter Jr.
      Pages 223-235
    8. Ingo Morano
      Pages 237-250
    9. Cornelia Dorn, Marcel Grunert, Ana Dopazo, Fátima Sánchez-Cabo, Alberto Gatto, Jésus Vázquez et al.
      Pages 251-269
  5. Atrial Septal Defect

    1. Front Matter
      Pages 271-271
    2. Rabia Khan, Patrick Y. Jay
      Pages 279-290
    3. Patrick Y. Jay, Karl R. Degenhardt, Robert H. Anderson
      Pages 291-300
  6. Ventricular Septal Defect

    1. Front Matter
      Pages 301-301
    2. Katherina Bellmann, Andreas Perrot, Silke Rickert-Sperling
      Pages 307-328
  7. Atrioventricular Septal Defect

  8. Total Anomalous Pulmonary Venous Return

    1. Front Matter
      Pages 367-367
    2. Robert E. Poelmann, Monique R. M. Jongbloed, Marco C. DeRuiter, Adriana C. Gittenberger-de Groot
      Pages 373-378
    3. Robert E. Poelmann, Adriana C. Gittenberger-de Groot, Monique R. M. Jongbloed, Marco C. DeRuiter
      Pages 379-394
  9. Tetralogy of Fallot and Double Outlet Right Ventricle

  10. d-Transposition of the Great Arteries

    1. Front Matter
      Pages 431-431
    2. Patrice Bouvagnet, Anne Moreau de Bellaing
      Pages 439-447
    3. Amy-Leigh Johnson, Simon D. Bamforth
      Pages 449-458
  11. Defects of Situs

    1. Front Matter
      Pages 459-459
    2. Andreas Perrot, Silke Rickert-Sperling
      Pages 463-472
    3. Nikolai T. Klena, George C. Gabriel, Cecilia W. Lo
      Pages 473-487

About this book


This book provides comprehensive insights into congenital heart disease from embryonic development through to clinical features, including human genetics and our current knowledge of the underlying molecular pathways. It 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 related animal models and pathways. Taken together these chapters, which were written by and for clinicians and researchers, provide an integrated and cutting-edge resource for all those who want to learn more about both the clinical aspects and the genetic and molecular basis of congenital heart disease.


cardiac malformation congenital heart disease genomics heart development molecular cardiology transcriptomics

Editors and affiliations

  • Silke Rickert-Sperling
    • 1
  • Robert G. Kelly
    • 2
  • David J. Driscoll
    • 3
  1. 1.Cardiovascular GeneticsCharité - Universitätsmedizin Berlin BerlinGermany
  2. 2.Developmental BiologyInst. of Marseilles, Aix-Marseille Univ. MarseilleFrance
  3. 3.Dpt. of Pediatrics Div.of Pediatric CardMayo Clinic College of MedicineRochesterUSA

Bibliographic information