1. The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry.
- Author
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Roston, Thomas M, Yuchi, Zhiguang, Kannankeril, Prince J, Hathaway, Julie, Vinocur, Jeffrey M, Etheridge, Susan P, Potts, James E, Maginot, Kathleen R, Salerno, Jack C, Cohen, Mitchell I, Hamilton, Robert M, Pflaumer, Andreas, Mohammed, Saira, Kimlicka, Lynn, Kanter, Ronald J, LaPage, Martin J, Collins, Kathryn K, Gebauer, Roman A, Temple, Joel D, Batra, Anjan S, Erickson, Christopher, Miszczak-Knecht, Maria, Kubuš, Peter, Bar-Cohen, Yaniv, Kantoch, Michal, Thomas, Vincent C, Hessling, Gabriele, Anderson, Chris, Young, Ming-Lon, Choi, Sally HJ, Cabrera Ortega, Michel, Lau, Yung R, Johnsrude, Christopher L, Fournier, Anne, Van Petegem, Filip, and Sanatani, Shubhayan
- Subjects
Cardiovascular ,Heart Disease ,Pediatric ,Clinical Research ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Calsequestrin ,Child ,DNA Mutational Analysis ,Death ,Sudden ,Cardiac ,Female ,Genetic Markers ,Genetic Predisposition to Disease ,Heredity ,Humans ,Male ,Models ,Molecular ,Mutation ,Pedigree ,Phenotype ,Prognosis ,Protein Conformation ,Registries ,Retrospective Studies ,Risk Factors ,Ryanodine Receptor Calcium Release Channel ,Structure-Activity Relationship ,Tachycardia ,Ventricular ,Catecholaminergic polymorphic ,Ventricular tachycardia ,RyR2 ,Arrhythmia ,Sudden unexpected death ,Clinical Sciences ,Cardiovascular System & Hematology - Abstract
AimsCatecholaminergic 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 resultsThis is a Pediatric and Congenital Electrophysiology Society multicentre, retrospective cohort study of CPVT patients diagnosed at
- Published
- 2018