Journal article
The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: Findings from an international multicentre registry
TM Roston, Z Yuchi, PJ Kannankeril, J Hathaway, JM Vinocur, SP Etheridge, JE Potts, KR Maginot, JC Salerno, MI Cohen, RM Hamilton, A Pflaumer, S Mohammed, L Kimlicka, RJ Kanter, MJ Lapage, KK Collins, RA Gebauer, JD Temple, AS Batra Show all
Europace | Published : 2018
Abstract
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy characterized by ventricular arrhythmia during exertion or stress. Mutations in RYR2-coded Ryanodine Receptor-2 (RyR2) and CASQ2-coded Calsequestrin-2 (CASQ2) genes underlie CPVT1 and CPVT2, respectively. However, prognostic markers are scarce. We sought to better characterize the phenotypic and genotypic spectrum of CPVT, and utilize molecular modelling to help account for clinical phenotypes. Methods and results This is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at <19 years of age and their first-degree relatives. Genetic te..
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Awarded by National Institutes of Health
Funding Acknowledgements
This work was supported by the Rare Disease Foundation and BC Children's Hospital Foundation, Vancouver, BC (T.M.R. and S.S.), National Institutes of Health-Grant no. HL108173, Bethesda, MD (P.J.K.), Canadian Institutes of Health Grant no. 125893, Ottawa, ON (F.V.P.), Caitlin Elizabeth Morris Fund of Appliance Canada (R.M.H.), MH CZ-DRO, University Hospital Motol, Prague, CZE 00064203 (P.K.).