Pathogenic/likely pathogenic variants in the RYR2 gene, encoding for the ryanodine receptor 2, underlie around 65% of all CPVT cases (autosomal dominant transmission), whereas variants in the CASQ2 gene, encoding cardiac calsequestrin, are found in 2–5% of cases (mainly autosomal recessive inheritance) (26). The gene discussed is RYR2; the disease is catecholaminergic polymorphic ventricular tachycardia.