Description
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. Introduction D. Woodrow Benson Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis Deborah A. McDermott, Craig T. Basson, and Cathy J. Hatcher Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome Deborah A. Driscoll Mutation Screening for the Genes Causing Cardiac Arrhythmias Jeffrey A. Towbin Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome Paul Coucke, Petra Van Acker, and Anne De Paepe Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE Navaratnam Elanko and Steve Jeffery Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization Lucy R. Osborne, Ann M. Joseph-George, and Stephen W. Scherer Congenital Heart Disease: Molecular Diagnostics of Supravalvular Aortic Stenosis May Tassabehji and Zsolt Urban ‘Chip’ping Away at Heart Failure J. David Barrans and Choong-Chin Liew Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing Alex V. Postma, Zahurul A. Bhuiyan, and Hennie Bikker Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens Aristotelis Astrinidis and Elizabeth Petri Henske Friedreich Ataxia: Detection of GAA Repeat Expansions and Frataxin Point Mutations Massimo Pandolfo The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations Elizabeth Goldmuntz, Elizabeth Moore, and Nancy B. Spinner Array Analysis Applied to Malformed Hearts: Molecular Dissection of Tetralogy of Fallot Silke Sperling DNA Mutation Analysis in Heterotaxy Stephanie M. Ware Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies Amy J. Sehnert Index
