Mutations in CASQ2 cause fatal ventricular arrythmia, referred to as catecholaminergic polymorphic ventricular tachycardia 2 (CPVT2) (38, 39), and the C-terminal end of this gene, where the variant (E388G) we found is located, is known to be functionally important (40). This evidence concerns the gene CASQ2 and catecholaminergic polymorphic ventricular tachycardia.