Mutational Analysis In CASQ2 In Families With Catecholaminergic Polymorphic Ventricular Tachycardia And Identification Of A Mutation F 189L

Objective: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, familial, physical and emotional stress-related ventricular tachycardia in the absence of structural heart disease. Mutations in the CASQ2 gene have been associated with CPVT. The aim of this study was to identify mutations and variants in CASQ 2 in 27 CPVT patients/family members.Methods: Mutational analysis was performed with direct DNA sequence analysis. The frequency of an identified CASQ2 variant was determined using the Taqman genotyping assay.Results: A novel heterozygous mutation, F189L , in CASQ2 was identified in one family with CPVT. Mutation F189L occurred at the evolutionarily, highly conserved phenylalanine residue at codon 189, and was not present in 1,400 control individuals. However, F189L did not co-segregate with the disease in the family. No other disease-causing mutations were identified in the CASQ2 gene.Conclusions: This study identified a novel F189L variant in the CASQ2 gene and future studies are needed to determine whether F189L confers risk of arrhythmias.