Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome
Roston TM, Wei J, Guo W, Li Y, Zhong X, Wang R, Estillore JP, Peltenburg PJ, Noguer FRI, Till J, Eckhardt LL, Orland KM, Hamilton R, LaPage MJ, Krahn AD, Tadros R, Vinocur JM, Kallas D, Franciosi S, Roberts JD, Wilde AAM, Jensen HK, Sanatani S, Chen SRW. Clinical and Functional Characterization of Ryanodine Receptor 2 Variants Implicated in Calcium-Release Deficiency Syndrome. JAMA Cardiology 2022, 7: 84-92. PMID: 34730774, PMCID: PMC8567190, DOI: 10.1001/jamacardio.2021.4458.Peer-Reviewed Original ResearchConceptsCatecholaminergic polymorphic ventricular tachycardiaExercise stress testingDeficiency syndromeRYR2 variantsVentricular tachyarrhythmiasArrhythmic eventsVentricular fibrillationLife-threatening arrhythmic eventsMulticenter observational cohort studyFunction variantsCardiac ryanodine receptor 2Complex ventricular tachyarrhythmiasPrevious arrhythmic eventsΒ-blocker therapyObservational cohort studyPolymorphic ventricular tachycardiaLife-threatening eventsSpectrum of diseaseVentricular fibrillation episodesFirst clinical seriesRyanodine receptor 2Better diagnostic toolsCohort studyVentricular arrhythmiasClinical series