Catecholaminergic polymorphic ventricular tachycardia causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mounika Reddy Vadiyala, M.B.B.S.[2]

Overview

Catecholaminergic polymorphic ventricular tachycardia is a genetic disorder. It is caused by mutations in the genes such as RYR2, CASQ2, CALM1 and TRDN.

Causes

Catecholaminergic polymorphic ventricular tachycardia is caused by mutation in the following genes:^[1]^[2]
- RYR2 encoding Ryanodine receptor 2
- CASQ2 encoding Calsequestrin 2
- CALM1 encoding Calmodulin 1
- TRDN encoding Triadin

To review risk factors for the development of CPVT, click here

References

↑ Priori, Silvia G.; Napolitano, Carlo; Tiso, Natascia; Memmi, Mirella; Vignati, Gabriele; Bloise, Raffaella; Sorrentino, Vincenzo; Danieli, Gian Antonio (2001). “Mutations in the Cardiac Ryanodine Receptor Gene ( hRyR2 ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia”. Circulation. 103 (2): 196–200. doi:10.1161/01.CIR.103.2.196. ISSN 0009-7322. line feed character in |title= at position 51 (help)
↑ Ackerman, M. J.; Priori, S. G.; Willems, S.; Berul, C.; Brugada, R.; Calkins, H.; Camm, A. J.; Ellinor, P. T.; Gollob, M.; Hamilton, R.; Hershberger, R. E.; Judge, D. P.; Le Marec, H.; McKenna, W. J.; Schulze-Bahr, E.; Semsarian, C.; Towbin, J. A.; Watkins, H.; Wilde, A.; Wolpert, C.; Zipes, D. P. (2011). “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)”. Europace. 13 (8): 1077–1109. doi:10.1093/europace/eur245. ISSN 1099-5129.

Overview