Catecholaminergic polymorphic ventricular tachycardia [11 genes]

Catecholamine polymorphic ventricular tachycardia is a rare genetic condition characterized by ventricular arrhythmias triggered by physical or emotional stress. It is considered a cause of sudden death in children and young adults with structurally normal hearts. The most common form of transmission is autosomal dominant, although some genes are also associated with a recessive inheritance pattern. A significant number of cases present de novo mutations (absent in both parents).

The prevalence of this disease is estimated at 1 / 10,000 individuals.

1. A diagnostic confirmation, which is often an important support in the differential diagnosis.
2. The most precise study of a patient’s relatives, so that carriers have access to an early/preclinical diagnosis and non-carriers can be safely discharged from cardiology consultations.

• Syncope/cardiorespiratory arrest during exercise or emotions
• PVT or bidirectional inducible in exercise or with emotions
• Electrocardiogram at rest without alterations
• Absence of structural heart disease (in very specific cases of variants that cause the deletion of exon 3 of RYR2, the phenotype may present dilated cardiomyopathy with or without hypertrabeculation)

The probability of detecting a causal genetic variant of the disease in a patient with suspected catecholaminergic polymorphic ventricular tachycardia is approximately 60%.