Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four‐generation Canadian family

摘要

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmia syndrome characterized by adrenergically driven ventricular arrhythmia predominantly caused by pathogenic variants in the cardiac ryanodine receptor (RyR2). We describe a novel variant associated with cardiac arrest in a mother and daughter.