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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.
List of contents
Genetics of Cardiac Septation Defects and Their Pre-Implantation Diagnosis.- Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome.- Mutation Screening for the Genes Causing Cardiac Arrhythmias.- Mutation Analysis of the FBN1 Gene in Patients With Marfan Syndrome.- Mutation Analysis of PTPN11 in Noonan Syndrome by WAVE.- Williams-Beuren Syndrome Diagnosis Using Fluorescence In Situ Hybridization.- Congenital Heart Disease.- "Chip"ping Away at Heart Failure.- Molecular Diagnostics of Catecholaminergic Polymorphic Ventricular Tachycardia Using Denaturing High-Performance Liquid Chromatography and Sequencing.- Mutation Detection in Tumor Suppressor Genes Using Archival Tissue Specimens.- Friedreich Ataxia.- The Cardiovascular Manifestations of Alagille Syndrome and JAG1 Mutations.- Array Analysis Applied to Malformed Hearts.- DNA Mutation Analysis in Heterotaxy.- Use of Denaturing High-Performance Liquid Chromatography to Detect Mutations in Pediatric Cardiomyopathies.
Summary
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.
