Congenital Heart Disease

1. Front Matter

   Pages i-x

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2. Introduction

   • D. Woodrow Benson

   Pages 1-18

3. Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis

   • Deborah A. McDermott, Craig T. Basson, Cathy J. Hatcher

   Pages 19-42

4. Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome

   • Deborah A. Driscoll

   Pages 43-55

5. Mutation Screening for the Genes Causing Cardiac Arrhythmias

   • Jeffrey A. Towbin

   Pages 57-79

6. Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome

   • Paul Coucke, Petra Van Acker, Anne De Paepe

   Pages 81-95

7. Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE

   • Navaratnam Elanko, Steve Jeffery

   Pages 97-111

8. Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization

   • Lucy R. Osborne, Ann M. Joseph-George, Stephen W. Scherer

   Pages 113-128

9. Congenital Heart Disease

   • May Tassabehji, Zsolt Urban

   Pages 129-156

10. “Chip”ping Away at Heart Failure

    • J. David Barrans, Choong-Chin Liew

    Pages 157-169

11. Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing

    • Alex V. Postma, Zahurul A. Bhuiyan, Hennie Bikker

    Pages 171-183

12. Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens

    • Aristotelis Astrinidis, Elizabeth Petri Henske

    Pages 185-196

13. Friedreich Ataxia

    • Massimo Pandolfo

    Pages 197-216

14. The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations

    • Elizabeth Goldmuntz, Elizabeth Moore, Nancy B. Spinner

    Pages 217-231

15. Array Analysis Applied to Malformed Hearts

    • Silke Sperling

    Pages 233-246

16. DNA Mutation Analysis in Heterotaxy

    • Stephanie M. Ware

    Pages 247-256

17. Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies

    • Amy J. Sehnert

    Pages 257-270

18. Back Matter

    Pages 271-278

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Prominent researchers and clinicians describe in detail all 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.

• cardiovascular
• congenital heart disease
• diagnostics
• genetics
• heart

• Transplantation Biology Research Lab Division of Cardiothoracic Surgery Children’s Hospital of Los Angeles, Los Angeles, USA

  Mary Kearns-Jonker

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