2024
Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency
Elizondo G, Saini A, Gonzalez de Alba C, Gregor A, Harding C, Gillingham M, Vinocur J. Cardiac phenotype in adolescents and young adults with long-chain 3-hydroxyacyl CoA dehydrogenase (LCHAD) deficiency. Genetics In Medicine 2024, 26: 101123. PMID: 38501492, DOI: 10.1016/j.gim.2024.101123.Peer-Reviewed Original ResearchLong-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyLong-chain 3-hydroxyacyl-CoA dehydrogenaseCardiac involvementCardiac arrestMetabolic decompensationCardiac phenotypeDilated cardiomyopathyLong-chain 3-hydroxyacyl-CoA dehydrogenase deficient patientsEpisodes of metabolic decompensationEnd-stage dilated cardiomyopathyOut-of-hospital cardiac arrestAcute cardiac decompensationIn-hospital cardiac arrestFatty acid oxidation disordersLife-threatening arrhythmiasInfantile dilated cardiomyopathySudden cardiac arrestPotential risk factorsCardiac manifestationsCardiac decompensationRestrictive cardiomyopathyRecurrent episodesRetrospective cohortRisk stratificationPeripheral neuropathy
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 ResearchConceptsInternational 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 individualsArrhythmias
2018
Mortality Following Pediatric Congenital Heart Surgery: An Analysis of the Causes of Death Derived From the National Death Index
McCracken C, Spector LG, Menk JS, Knight JH, Vinocur JM, Thomas AS, Oster ME, St Louis JD, Moller JH, Kochilas L. Mortality Following Pediatric Congenital Heart Surgery: An Analysis of the Causes of Death Derived From the National Death Index. Journal Of The American Heart Association 2018, 7: e010624. PMID: 30571499, PMCID: PMC6404427, DOI: 10.1161/jaha.118.010624.Peer-Reviewed Original ResearchConceptsCongenital heart surgeryNational Death IndexCongenital heart defectsStandardized mortality ratioCause of deathHeart surgeryDeath IndexCardiovascular disordersHeart failureSeverity of CHDCause-specific standardized mortality ratiosPediatric Cardiac Care ConsortiumRetrospective cohort studyAdjusted odds ratioLong-term outcomesRisk of deathLong-term riskConclusions SurvivorsMedian followNoncardiac conditionsCohort studyResidual morbidityEarly outcomesLate causesCardiac arrest
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