CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardia

摘要

Biallelic variants of the are known to cause the autosomal recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited disease that predisposes young individuals to syncope and sudden cardiac death. To date, only about 24 variants have been reported in association with CPVT pathogenesis; furthermore, studies in Asians, especially in the Chinese population, are relatively rare. The aim of this study was to detect variants in Chinese patients with CPVT.