Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.
The sentinel descriptions of congenital long QT syndrome (LQTS) under the eponyms of Jervell and Lange-Nielsen syndrome and Romano-Ward syndrome were provided in 1957 and the early 1960s. In 1995, the discipline of cardiac channelopathies was birthed formally with the landmark discoveries of cardiac channel mutations as the pathogenic basis for LQTS. Over the past decade, the discipline has expanded considerably being comprised of at least a dozen distinct heritable arrhythmia syndromes, several disease-susceptibility genes, and hundreds of implicated mutations. Previously confined to the purview of research testing, diagnostic genetic testing for several channelopathies is now available for routine clinical use.
Ackerman
Michael J
MJ
Long QT Syndrome Clinic and Sudden Death Genomics Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, MN, USA. ackerman.michael@mayo.edu
D002648:Child; D003645:Death, Sudden / Q000209:etiology* / Q000517:prevention & control; D004562:Electrocardiography; D005820:Genetic Testing / Q000379:methods; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D008133:Long QT Syndrome / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D009154:Mutation; D024642:Potassium Channels, Voltage-Gated / Q000145:classification / Q000235:genetics; D012640:Seizures / Q000235:genetics / Q000503:physiopathology*; D013575:Syncope / Q000235:genetics / Q000503:physiopathology*
D024642:Potassium Channels, Voltage-Gated