Most RyR2 mutations associated with CPVT are missense variants (96%), leading to a gain-of-function of the RyR2 channel resulting in abnormal calcium handling, characterized by excessive accumulation of diastolic calcium in the sarcoplasmic reticulum and its spontaneous release into the cytoplasm [16]. This evidence concerns the gene RYR2 and catecholaminergic polymorphic ventricular tachycardia.