Congenital Heart Disease

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.

Includes supplementary material: sn.pub/extras

Texte du rabat
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.

Contenu
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.- Chipping 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.