Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia is a rare genetic condition characterized by the development of typical ventricular arrhythmias triggered by physical or emotional stress. The prevalence of this disease is estimated in 1/10,000 individuals. 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 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.
- HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013.
- Priori SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
- HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109.
Catecholaminergic Polymorphic Ventricular Tachycardia Panel
This panel includes the two genes associated with the development of catecholaminergic polymorphic ventricular tachycardia and another group of genes associated with phenotypes that constitute differential diagnoses of this entity, since they present bidirectional or polymorphic ventricular arrhythmia.
RYR2, CASQ2, KCNJ2, ANK2, CALM1, CALM2, TRDN, SCN5A*
Other Panels that Include this Diagnosis
Notes on Genes:
Priority Genes: These genes include >70% of the mutations that have been previously associated with the development of dilated cardiomyopathy and/or their testing is recommended in the guidelines. Secondary genes: Other genes related to the disease. *Candidate genes: With no evidence, but likely to be related to the phenotype.