Store overload-induced Ca2+ release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes.

摘要

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic cardiac disorder caused, in part, by dominant mutations in RYR2, the cardiac ryanodine receptor (RyR2) gene (Liu et al. 2009). The disorder manifests as syncopal events and sudden cardiac death, usually in response to intensive exercise; elevated catecholamines induce arrhythmogenic episodes that respond to beta-blockers.