Journal article

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

Belinda Gray, Richard D Bagnall, Lien Lam, Jodie Ingles, Christian Turner, Eric Haan, Andrew Davis, Pei-Chi Yang, Colleen E Clancy, Raymond W Sy, Christopher Semsarian

Heart Rhythm | ELSEVIER SCIENCE INC | Published : 2016

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 perform..

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