On genetic testing, a pathogenic homozygous missense variant in exon 65 of the RYR2 gene (chr1: g.237700452G>A; Depth: 66x) that results in the amino acid substitution of arginine for glycine at codon 3118 (p. Gly3118Arg; ENST00000366574.7) was discovered, which is a novel mutation of the RYR2 gene mutation resulting in CPVT. Here, RYR2 is linked to catecholaminergic polymorphic ventricular tachycardia.