Congenital Heart Disease Molecular Diagnostics [Hardcover]

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.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.IntroductionD. Woodrow BensonGenetics of Cardiac Septation Defects and Their Pre-Implantation DiagnosisDeborah A. McDermott, Craig T. Basson, and Cathy J. HatcherMolecular and Genetic Aspects of DiGeorge/Velocardiofacial SyndromeDeborah A. DriscollMutation Screening for the Genes Causing Cardiac ArrhythmiasJeffrey A. TowbinMutation Analysis of the FBN1 Gene in Patients With Marfan SyndromePaul Coucke, Petra Van Acker, and Anne De PaepeMutation Analysis of PTPN11 in Noonan Syndrome by WAVENavaratnam Elanko and Steve JefferyWilliams-Beuren Syndrome Diagnosis Using Fluorescence In Situ HybridizationLucy R. Osborne, Ann M. Joseph-George, and Stephen W. SchererCongenital Heartl3æ