A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.

ABSTRACT:

Background

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. Mutations in the cardiac ryanodine receptor gene (RYR2) cause an autosomal dominant form of CPVT, while mutations in the cardiac calsequestrin 2 gene (CASQ2) cause an autosomal recessive form.

Objective

The aim of this study was to clinically and genetically evaluate a large family with severe autosomal dominant CPVT.

Methods

Clinical evaluation of family members was performed, including detailed history, physical examination, electrocardiogram, exercise stress test, and autopsy review of decedents. We performed genome-wide linkage analysis in 12 family members and exome sequencing in 2 af

SUBMITTER: Gray B 

PROVIDER: S-EPMC5453511 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature