title: Genetics of sudden cardiac death syndromes.
abstract: OBJECTIVE
  To survey recent developments in the field of genetics encompassing discovery of new candidate genes, new diagnostic strategies, and new therapies for sudden cardiac death (SCD) syndromes.
  
  
  RESULTS
  In addition to new mutations in known SCD genes, several novel genes not previously implicated in SCD causation have been found, particularly in long QT syndrome (e.g., KCNJ5, AKAP9, SNTA1), idiopathic ventricular fibrillation (e.g., DPP6, KCNJ8), dilated cardiomyopathy (e.g., NEBL), and hypertrophic cardiomyopathy (HCM; e.g., NEXN). Genetic SCD animal models have provided novel insights into the cellular mechanism and pathogenesis of nearly all the major SCD syndromes, which has led to several new drug therapies for patients with genetic arrhythmia syndromes (e.g., flecainide in catecholaminergic polymorphic ventricular tachycardia). Furthermore, genetic contributions to acquired heart diseases are increasingly being recognized. For example, a 21q21 locus is strongly associated with ventricular fibrillation after myocardial infarction. Near this locus is CXADR, a gene encoding a viral receptor implicated in myocarditis and dilated cardiomyopathy. Finally, common variants in cardiac ion channels and proteins likely contribute to common cardiac phenotypes.
  
  
  CONCLUSIONS
  Major strides have been made in uncovering new genes, mechanisms, and syndromes that have significantly advanced the diagnosis and treatment of genetic SCD disorders.
authors: Division of Cardiology, Department of Medicine, Oates Institute for Experimental Therapeutics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
authors: Nagesh
authors: N
authors: Chopra
authors: Björn C
authors: BC
authors: Knollmann
mesh_terms: D053840:Brugada Syndrome / Q000150:complications / Q000235:genetics; D009202:Cardiomyopathies / Q000150:complications / Q000235:genetics; D016757:Death, Sudden, Cardiac / Q000517:prevention & control*; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics; D009154:Mutation; D012307:Risk Factors; D017180:Tachycardia, Ventricular / Q000235:genetics; D014693:Ventricular Fibrillation / Q000150:complications / Q000235:genetics; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia