chapter  22
Cardiac Channelopathies
Pages 10

The discipline of cardiac channelopathies formally began in 1995 with the discovery of mutations in genes encoding critical ion channels of the heart as the pathogenic basis for congenital long QT syndrome (LQTS). Besides the classic autosomal dominant (Romano-Ward syndrome) and recessive ( Jervell and Lange-Nielsen syndrome) forms of LQTS, the cardiac channelopathies now comprise Andersen-Tawil syndrome, Timothy syndrome, drug-induced torsades de pointes, short QT syndrome (SQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), Brugada syndrome, idiopathic ventricular fibrillation, progressive cardiac conduction disease or familial atrioventricular conduction block or Lev-Lenègre disease, and familial atrial fibrillation (FAF). Even primary cardiomyopathies such as dilated cardiomyopathy have been shown to stem from genetically mediated perturbations in ion channels, specifically the SCN5A-encoded cardiac sodium channel.