Compound heterozygous CASQ2 mutations and long ‐term course of catecholaminergic polymorphic ventricular tachycardia

ConclusionThis study describes a novel CPVT genotype and further characterizes the effect of a previously reported CASQ2 splice site mutation. The long‐term follow‐up of 23 years since first symptom provides additional insight into the natural history of CASQ2‐associated CPVT. We report a case of CPVT caused by compound homozygous loss‐of‐function mutations in CASQ2, a missense early stop codon and splice site mutation with documented disruption of mRNA processing. Details of a greater than 23‐year follow‐up provides new insights on natural history of this potentially lethal disease.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: Clinical Report Source Type: research