Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an uncommon 
heritable disease presenting with syncope or sudden cardiac death. Two genes 
involved in calcium homeostasis, the ryanodine receptor gene and the 
calsequestrin 2 (CASQ2) gene, have been implicated in this disease. We describe 
a young man presenting with exercise-induced syncope, clinically diagnosed as 
CPVT. Genetic analysis revealed two mutations, p.Y55C (c.164A>G) and p.P308L 
(c.923C>T), in the CASQ2 gene. Subsequent familial analysis indicates a compound 
heterozygous form of inheritance.