Article
A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia.
Heart rhythm - 1 Aug 2016
Gray Belinda, Bagnall Richard D, Lam Lien, Ingles Jodie, Turner Christian, Haan Eric, Davis Andrew, Yang Pei-Chi, Clancy Colleen E, Sy Raymond W, Semsarian Christopher
Abstract excerpt
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...
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