2023
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry
Crotti L, Spazzolini C, Nyegaard M, Overgaard M, Kotta M, Dagradi F, Sala L, Aiba T, Ayers M, Baban A, Barc J, Beach C, Behr E, Bos J, Cerrone M, Covi P, Cuneo B, Denjoy I, Donner B, Elbert A, Eliasson H, Etheridge S, Fukuyama M, Girolami F, Hamilton R, Horie M, Iascone M, Jiménez-Jaimez J, Jensen H, Kannankeril P, Kaski J, Makita N, Muñoz-Esparza C, Odland H, Ohno S, Papagiannis J, Porretta A, Prandstetter C, Probst V, Robyns T, Rosenthal E, Rosés-Noguer F, Sekarski N, Singh A, Spentzou G, Stute F, Tfelt-Hansen J, Till J, Tobert K, Vinocur J, Webster G, Wilde A, Wolf C, Ackerman M, Schwartz P. Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry. European Heart Journal 2023, 44: 3357-3370. PMID: 37528649, PMCID: PMC10499544, DOI: 10.1093/eurheartj/ehad418.Peer-Reviewed Original ResearchMeSH KeywordsCalmodulinChildDeath, Sudden, CardiacHumansLong QT SyndromeMutationRegistriesTachycardia, VentricularConceptsClinical presentationPrimary neurological manifestationsCardiac structural abnormalitiesLife-threatening arrhythmia syndromesArrhythmic event rateAbsence of symptomsLife-threatening arrhythmiasSodium channel blockersCongenital heart defectsAntiadrenergic interventionsCardiac eventsHeart failureNeurological manifestationsUnderlying molecular mechanismsDefinitive recommendationsClinical severityChannel blockersObservational studySudden deathIndex caseArrhythmia syndromesHeart defectsPrevalent phenotypeStructural abnormalitiesCurrent management
2022
Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review
Lawley C, Tester M, Sanatani S, Prendiville T, Beach C, Vinocur J, Horie M, Uhm J, Khongphatthanayothin A, Ayers M, Starling L, Yoshida Y, Shah M, Skinner J, Turner C. Life-threatening cardiac arrhythmia and sudden death during electronic gaming: An international case series and systematic review. Heart Rhythm 2022, 19: 1826-1833. PMID: 37850595, DOI: 10.1016/j.hrthm.2022.08.003.Peer-Reviewed Original ResearchMeSH KeywordsArrhythmias, CardiacChildDeath, SuddenDeath, Sudden, CardiacHeartHumansMaleTachycardia, VentricularVideo GamesConceptsInternational case seriesLife-threatening cardiac arrhythmiasCardiac arrhythmiasCase seriesSystematic reviewCatecholaminergic polymorphic ventricular tachycardiaPolymorphic ventricular tachycardiaLong QT syndromeLethal cardiac arrhythmiasCardiac eventsCoronary ischemiaCardiac surgeryVentricular arrhythmiasCardiac arrestSusceptible childrenVentricular tachycardiaVentricular fibrillationSudden deathCardiac conditionsArrhythmic triggersCardiac diagnosisPatientsQT syndromeSusceptible individualsArrhythmiasClinical 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
2021
Identification and successful management of near-lethal ventricular tachycardia in 2q24 deletion-associated developmental and epileptic encephalopathy
Toth J, Waickman A, Jost J, Seltzer L, Vinocur JM, Auerbach DS. Identification and successful management of near-lethal ventricular tachycardia in 2q24 deletion-associated developmental and epileptic encephalopathy. Seizure 2021, 91: 146-149. PMID: 34161902, DOI: 10.1016/j.seizure.2021.06.003.Peer-Reviewed Case Reports and Technical Notes
2018
Hereditary arrhythmias and cardiomyopathies
Louis C, Calamaro E, Vinocur JM. Hereditary arrhythmias and cardiomyopathies. Current Opinion In Cardiology 2018, 33: 78-86. PMID: 29059074, DOI: 10.1097/hco.0000000000000477.Commentaries, Editorials and LettersMeSH KeywordsArrhythmias, CardiacArrhythmogenic Right Ventricular DysplasiaBrugada SyndromeCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, Hypertrophic, FamilialClinical Decision-MakingGenetic CounselingGenetic TestingHealth Services AccessibilityHumansLong QT SyndromePatient Care TeamPractice Guidelines as TopicTachycardia, VentricularConceptsHereditary arrhythmiasGenetic testingClass I recommendationManagement of patientsStandard of careAppropriateness of useI recommendationConsensus guidelinesCardiomyopathy diagnosisFamily screeningClinical geneticsReproductive planningClinical practiceMultidisciplinary teamOptimal managementArrhythmiasAppropriate useCardiomyopathyDiagnosisGenetic counselorsGuidelinesCase-based approachPatientsPrognosisTesting
2017
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
2015
Catecholaminergic Polymorphic Ventricular Tachycardia in Children
Roston TM, Vinocur JM, Maginot KR, Mohammed S, Salerno JC, Etheridge SP, Cohen M, Hamilton RM, Pflaumer A, Kanter RJ, Potts JE, 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, Cabrera Ortega M, Lau YR, Johnsrude CL, Fournier A, Kannankeril PJ, Sanatani S. Catecholaminergic Polymorphic Ventricular Tachycardia in Children. Circulation Arrhythmia And Electrophysiology 2015, 8: 633-642. PMID: 25713214, PMCID: PMC4472494, DOI: 10.1161/circep.114.002217.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAge FactorsAnti-Arrhythmia AgentsChildDeath, Sudden, CardiacDefibrillators, ImplantableElectric CountershockFemaleHumansMalePatient SelectionPhenotypeRegistriesRetrospective StudiesRisk FactorsSeverity of Illness IndexSympathectomyTachycardia, VentricularTime FactorsTreatment OutcomeConceptsCatecholaminergic polymorphic ventricular tachycardiaPolymorphic ventricular tachycardiaCardiac sympathetic denervationImplantable cardioverter defibrillatorVentricular tachycardiaSympathetic denervationTreatment failureCardioverter defibrillatorΒ-blockersCatecholaminergic polymorphic ventricular tachycardia patientsQuarter of patientsRetrospective cohort studyDevice-related complicationsTreatment failure eventsYears of ageVentricular tachycardia patientsCohort studyStandard therapySymptom onsetSymptomatic presentationCardiac arrestSubtherapeutic dosingTreatment outcomesElectrical stormTachycardia patients