Catecholaminergic polymorphic ventricular tachycardia screening
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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
There is insufficient evidence to recommend routine screening for Catecholaminergic polymorphic ventricular tachycardia. But screening among relatives is indicated when a likely pathogenetic mutation is identified in clinically affected index cases. Screening methods for CPVT are exercise stress testing and genetic testing.
Screening
- Screening of all the first-degree relatives is indicated when a likely pathogenetic mutation is identified in clinically affected index cases.
- Clinical and genetic evaluation, including exercise stress testing is recommended for both first- and second-degree relatives.
- Exercise stress testing has a specificity of 97% and a sensitivity of 50% for predicting the presence of the familial CPVT-associated mutation in asymptomatic relatives of CPVT patients.[1][2][3]
- Genetic testing for RyR2 and CASQ2 mutations should also be considered in first-degree relatives, even with a negative clinical phenotype.
- Screening by repeat exercise testing is also recommended in first-degree relatives of mutation-negative patients with CPVT, depending on the age of the relative.[4]
References
- ↑ Hayashi, Meiso; Denjoy, Isabelle; Extramiana, Fabrice; Maltret, Alice; Buisson, Nathalie Roux; Lupoglazoff, Jean-Marc; Klug, Didier; Hayashi, Miyuki; Takatsuki, Seiji; Villain, Elisabeth; Kamblock, Joël; Messali, Anne; Guicheney, Pascale; Lunardi, Joël; Leenhardt, Antoine (2009). "Incidence and Risk Factors of Arrhythmic Events in Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 119 (18): 2426–2434. doi:10.1161/CIRCULATIONAHA.108.829267. ISSN 0009-7322.
- ↑ van der Werf, Christian; Nederend, Ineke; Hofman, Nynke; van Geloven, Nan; Ebink, Corné; Frohn-Mulder, Ingrid M.E.; Alings, A. Marco W.; Bosker, Hans A.; Bracke, Frank A.; van den Heuvel, Freek; Waalewijn, Reinier A.; Bikker, Hennie; van Tintelen, J. Peter; Bhuiyan, Zahurul A.; van den Berg, Maarten P.; Wilde, Arthur A.M. (2012). "Familial Evaluation in Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation: Arrhythmia and Electrophysiology. 5 (4): 748–756. doi:10.1161/CIRCEP.112.970517. ISSN 1941-3149.
- ↑ Hayashi, Miyuki; Denjoy, Isabelle; Hayashi, Meiso; Extramiana, Fabrice; Maltret, Alice; Roux-Buisson, Nathalie; Lupoglazoff, Jean-Marc; Klug, Didier; Maury, Philippe; Messali, Anne; Guicheney, Pascale; Leenhardt, Antoine (2012). "The role of stress test for predicting genetic mutations and future cardiac events in asymptomatic relatives of catecholaminergic polymorphic ventricular tachycardia probands". EP Europace. 14 (9): 1344–1351. doi:10.1093/europace/eus031. ISSN 1532-2092.
- ↑ 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.