Most RyR2 variants associated with CPVT are missense or small insertions/deletions as opposed to truncating variants, supporting a dominant negative mechanism wherein the mutant protein prevents normal function of the wild type.52 A large inframe deletion incorporating exon 3 and associated intronic sequences has been linked with a broader phenotype of left ventricular noncompaction, conduction disease, atrial arrhythmias, exertional ventricular arrhythmias, and sudden death. The gene discussed is RYR2; the disease is catecholaminergic polymorphic ventricular tachycardia.