Mutations of the Cardiac Ryanodine Recepter (RyR2) Gene in Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract

In 20cases with clinically-diagnosed catecholaminergic polymorphic ventricular tachycardia (CPVT) from 12 unrelated Japanese families, we conducted genetic testing on RyR2, a gene encoding the cardiac ryanodine receptor. The correlation between RyR2−mutations and clinical phenotypes was investigated. The RyR2 mutations were found in 9 cases from the 20 probands (incidence : 45.0%) and in 3 from the 12 family members manifesting CPVT (incidence : 25.0%) Both bidirectional ventricular tachycardia (bVT) and atrial arrhythmias were significantly more frequent in RyR2-positive compared to RyR2-negative CPVT patients. The findings suggested that RyR2 mutations are closely related with bVT and atrial arrhythmias of early onset.