Catecholaminergic polymorphic ventricular tachycardia genetic testing
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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
Genetic testing helps in the confirmation of the diagnosis of catecholaminergic polymorphic ventricular tachycardia. It allows the identification of mutations in up to 65% of patients with a clinical diagnosis of CPVT. There are HRS/EHRA Expert Consensus Recommendations for Genetic testing in Catecholaminergic polymorphic ventricular tachycardia.
Genetic Testing
- Genetic testing helps in the confirmation of the diagnosis of CPVT.
- Genetic screening allows the identification of mutations in up to 65% of patients with a clinical diagnosis of CPVT.
- Identification of heterozygous pathogenic variants in RYR2 or CALM1 or of biallelic pathogenic variants in CASQ2 or TRDN can also establish the diagnosis of CPVT.
- Recommendations for genetic testing are:[1][2]
- Comprehensive or CPVT1 and CVPT2 (RYR2 and CASQ2) targeted CPVT genetic testing is recommended for any patient in whom a clinical index of suspicion for CPVT has been established based on examination of the patient's clinical history, family history, and expressed electrocardiographic phenotype during exercise stress testing or catecholamine infusion.
- Mutation-specific genetic testing is recommended for family members and appropriate relatives following the identification of the CPVT-causative mutation in an index case. Those family members with identified mutations should be treated even in the absence of a positive exercise stress test.[3]
References
- ↑ 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.
- ↑ Hofman, Nynke; Tan, Hanno L.; Alders, Mariëlle; Kolder, Iris; de Haij, Simone; Mannens, Marcel M.A.M.; Lombardi, Maria Paola; Lekanne dit Deprez, Ronald H.; van Langen, Irene; Wilde, Arthur A.M. (2013). "Yield of Molecular and Clinical Testing for Arrhythmia Syndromes". Circulation. 128 (14): 1513–1521. doi:10.1161/CIRCULATIONAHA.112.000091. ISSN 0009-7322.
- ↑ Priori, Silvia G.; Blomström-Lundqvist, Carina; Mazzanti, Andrea; Blom, Nico; Borggrefe, Martin; Camm, John; Elliott, Perry Mark; Fitzsimons, Donna; Hatala, Robert; Hindricks, Gerhard; Kirchhof, Paulus; Kjeldsen, Keld; Kuck, Karl-Heinz; Hernandez-Madrid, Antonio; Nikolaou, Nikolaos; Norekvål, Tone M.; Spaulding, Christian; Van Veldhuisen, Dirk J. (2015). "2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death". European Heart Journal. 36 (41): 2793–2867. doi:10.1093/eurheartj/ehv316. ISSN 0195-668X.