Catecholaminergic polymorphic ventricular tachycardia [11 genes]

Catecholaminergic polymorphic ventricular tachycardia is a rare genetic condition characterized by the development of typical ventricular arrhythmias triggered by physical or emotional stress. The development of ventricular arrhythmias can lead to syncope, cardiac arrest or sudden death, occurring especially in children or young adults with no background of cardiac abnormalities. The inheritance pattern is autosomal dominant, although a significant proportion of cases present de novo mutations (mutations absent in both parents).

• Patients diagnosed with or under diagnostic suspicion of catecholaminergic polymorphic ventricular tachycardia: probands or relatives who, having a structurally normal heart and normal ECG, develop bidirectional ventricular tachycardia or polymorphic extrasystoles induced by catecholamines or exercise.
• It might be considered for subjects with personal or familial history of sudden death or syncope of unknown origin.
• Subjects with ventricular fibrillation of unknown origin.
• Relatives of patients with genetic diagnosis of catecholaminergic polymorphic ventricular tachycardia.

The test yield is high in patients with a clearly established clinical diagnosis is around 70%-80%. Clinical specificity is 95%. The predictive value of the test (probability of carriers developing the disease throughout their life) is 80%. Within this group, it is estimated that 30% of subjects may present sudden death in the absence of treatment