Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a cardiac 
channelopathy characterized by altered intracellular calcium handling resulting 
in ventricular arrhythmias and high risk of cardiac sudden death in young cases 
with normal structural hearts. Patients present with exertional syncope and the 
trademark dysrhythmia is polymorphic and/or bidirectional ventricular 
tachycardia during exercise or adrenergic stimulation. Early detection of CPVT 
is crucial because opportune medical intervention prevents sudden cardiac death. 
Mutations in the ryanodine receptor RYR2 explain nearly 70% of the CPVT cases 
and cause the autosomic dominant form of the disease. Mutations in calsequestrin 
2 causes a recessive form and explain less than 5% of all cases. Genetic 
screening in CPVT, besides providing early detection of asymptomatic carriers at 
risk, has provided important insights in the mechanism underlying the disease. 
Mutational analysis of RYR2 has been a challenge due to the large size of the 
gene, 105 exons encoded for 4,967 amino-acids. In this review we analyze general 
concepts of the disease, differential diagnosis and strategies for genetic 
screening.