In our case, the identified RYR2 missense variant NM_001035.2:c.12370A > C (p.Ser4124Arg) was associated with QTc prolongation and a family history of syncope, without features typical of CPVT such as bidirectional VT or exercise-induced arrhythmias. Here, RYR2 is linked to catecholaminergic polymorphic ventricular tachycardia.