The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry
Roston TM, Yuchi Z, Kannankeril PJ, Hathaway J, Vinocur JM, Etheridge SP, Potts JE, Maginot KR, Salerno JC, Cohen MI, Hamilton RM, Pflaumer A, Mohammed S, Kimlicka L, Kanter RJ, LaPage MJ, Collins KK, Gebauer RA, Temple JD, Batra AS, Erickson C, Miszczak-Knecht M, Kubuš P, Bar-Cohen Y, Kantoch M, Thomas VC, Hessling G, Anderson C, Young ML, Choi SHJ, Cabrera Ortega M, Lau YR, Johnsrude CL, Fournier A, Van Petegem F, Sanatani S. The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. EP Europace 2017, 20: 541-547. PMID: 28158428, PMCID: PMC6059141, DOI: 10.1093/europace/euw389.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentCalsequestrinChildDeath, Sudden, CardiacDNA Mutational AnalysisFemaleGenetic MarkersGenetic Predisposition to DiseaseHeredityHumansMaleModels, MolecularMutationPedigreePhenotypePrognosisProtein ConformationRegistriesRetrospective StudiesRisk FactorsRyanodine Receptor Calcium Release ChannelStructure-Activity RelationshipTachycardia, VentricularConceptsCatecholaminergic polymorphic ventricular tachycardiaPolymorphic ventricular tachycardiaCardiac eventsCPVT patientsVentricular tachycardiaLife-threatening cardiac eventsInternational multicentre registrySevere CPVT phenotypeRetrospective cohort studyFirst-degree relativesYears of ageRyanodine receptor 2CPVT phenotypeMulticentre registryCohort studySymptomatic patientsMulticentre studyVentricular arrhythmiasCardiac arrestPrognostic markerReceptor 2Ion channelopathiesClinical phenotypeGenetic spectrumGenotypic spectrum