Homozygous mutations in the cardiac calsequestrin (CASQ2) gene are linked to the recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), a life-threatening genetic disease causing dramatic episodes of cardiac arrhythmia and syncope, in the absence of macroscopic structural abnormalities. This evidence concerns the gene CASQ2 and catecholaminergic polymorphic ventricular tachycardia.