An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of <i>CASQ2</i> -Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract

This international multicenter study of <i>CASQ2</i>-CPVT redefines its heritability and confirms that pathogenic heterozygous <i>CASQ2</i> variants may manifest with a CPVT phenotype, indicating a need to clinically screen these individuals. A dominant mode of inheritance appears intrinsic to certain missense variants because of their location and function within the CASQ2 filament structure.