Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract

TECRL is the causative gene of an autosomal-recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), the so-called type 3 CPVT. However, only 17 families have been reported worldwide and no case of symptomatic heterozygous carriers has been described. We report herein genotypes and clinical phenotypes of a family of European ancestry harboring a new TECRL pathogenic variant and, for the first time, a CPVT-like phenotype in a TECRL heterozygous variant carrier. Due to this novel evidence, clinicians should be aware that TECRL heterozygous variant carriers should undergo cardiac assessment and therapy introduction in case of a CPVT clinical diagnosis.