Congenital Heart Disease

Molecular Diagnostics

  • Mary Kearns-Jonker

Part of the Methods in Molecular Medicine book series (MIMM, volume 126)

Table of contents

  1. Front Matter
    Pages i-x
  2. D. Woodrow Benson
    Pages 1-18
  3. Deborah A. McDermott, Craig T. Basson, Cathy J. Hatcher
    Pages 19-42
  4. Paul Coucke, Petra Van Acker, Anne De Paepe
    Pages 81-95
  5. Navaratnam Elanko, Steve Jeffery
    Pages 97-111
  6. Lucy R. Osborne, Ann M. Joseph-George, Stephen W. Scherer
    Pages 113-128
  7. May Tassabehji, Zsolt Urban
    Pages 129-156
  8. J. David Barrans, Choong-Chin Liew
    Pages 157-169
  9. Aristotelis Astrinidis, Elizabeth Petri Henske
    Pages 185-196
  10. Massimo Pandolfo
    Pages 197-216
  11. Elizabeth Goldmuntz, Elizabeth Moore, Nancy B. Spinner
    Pages 217-231
  12. Silke Sperling
    Pages 233-246
  13. Stephanie M. Ware
    Pages 247-256
  14. Back Matter
    Pages 271-278

About this book


Recent exciting advances in molecular genetics and in our understanding of the molecular basis for cardiovascular disease have now made it possible to use genetic tests to identify and provide early treatment for those patients at risk for heart disease. In Congenital Heart Disease: Molecular Diagnostics, prominent researchers and clinicians describe in detail the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods. The protocols follow the successful Methods in Molecular Medicine™ series format, each offering step-by-step laboratory instructions, an introduction outlining the principles behind the technique, lists of the necessary equipment and reagents, and tips on troubleshooting, experimental design, and avoiding known pitfalls.
Comprehensive and highly practical, Congenital Heart Disease: Molecular Diagnostics not only updates the reader with state-of-the-art information about the genetic basis of cardiovascular disease, but also provides the techniques for early diagnosis and treatment of patients afflicted with heart disease.


cardiovascular congenital heart disease diagnostics genetics heart

Editors and affiliations

  • Mary Kearns-Jonker
    • 1
  1. 1.Transplantation Biology Research Lab Division of Cardiothoracic Surgery Children’s Hospital of Los AngelesLos AngelesUSA

Bibliographic information

  • DOI
  • Copyright Information Humana Press 2006
  • Publisher Name Humana Press
  • eBook Packages Springer Protocols
  • Print ISBN 978-1-58829-375-6
  • Online ISBN 978-1-59745-088-1
  • Series Print ISSN 1543-1894
  • Series Online ISSN 1940-6037
  • Buy this book on publisher's site