2023
Long term outcome after septal reduction therapies in patients with hypertrophic cardiomyopathy: insights from the SHaRe registry
Maurizi N, Day S, Ashley E, Michels M, Pereira A, Helms A, Saberi S, Jacoby D, Ware J, Colan S, Semsarian C, Ingles J, Ho C, Olivotto I. Long term outcome after septal reduction therapies in patients with hypertrophic cardiomyopathy: insights from the SHaRe registry. European Heart Journal 2023, 44: ehad655.1852. DOI: 10.1093/eurheartj/ehad655.1852.Peer-Reviewed Original ResearchLong-term outcomesPeri-procedural mortalityAlcohol septal ablationTerm outcomesHF outcomesComposite outcomeLV maximal wall thicknessDilated left atriumSeptal reduction therapyPredictor of prognosisMaximal wall thicknessPost-operative resultsProportional hazards modelMost available studiesLA diameterSeptal ablationVA outcomesHeart failureOverall mortalityLV EFVentricular arrhythmiasHF eventsHCM patientsSarcomeric mutationsSpecialty centers
2022
Impact of SARS‐Cov‐2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry
Gimeno JR, Olivotto I, Rodríguez AI, Ho CY, Fernández A, Quiroga A, Espinosa MA, Gómez‐González C, Robledo M, Tojal‐Sierra L, Day SM, Owens A, Barriales‐Villa R, Larrañaga JM, Rodríguez‐Palomares J, González‐del‐Hoyo M, Piqueras‐Flores J, Reza N, Chumakova O, Ashley EA, Parikh V, Wheeler M, Jacoby D, Pereira AC, Saberi S, Helms AS, Villacorta E, Gallego‐Delgado M, de Castro D, Domínguez F, Ripoll‐Vera T, Zorio‐Grima E, Sánchez‐Martínez J, García‐Álvarez A, Arbelo E, Mogollón MV, Fuentes‐Cañamero M, Grande E, Peña C, Monserrat L, Lakdawala NK, Muñoz‐Esparza C, García‐Pinilla J, Robles‐Mezcua A, Moreno‐Flores M, Peña M, Merlo M, Cubillo D, Climent‐Payá V, Dankovtseva E, Vilela A, García‐Pavía P, Casas G. Impact of SARS‐Cov‐2 infection in patients with hypertrophic cardiomyopathy: results of an international multicentre registry. ESC Heart Failure 2022, 9: 2189-2198. PMID: 36255281, PMCID: PMC9288745, DOI: 10.1002/ehf2.13964.Peer-Reviewed Original ResearchConceptsSARS-CoV-2 infectionVentricular outflow tract obstructionOutflow tract obstructionRisk of mortalityHypertrophic cardiomyopathySARS-CoV-2HCM patientsSystolic impairmentTract obstructionOdds ratioBaseline New York Heart Association classNew York Heart Association classLeft ventricular outflow tract obstructionControl groupPresence of HCMBaseline functional classInternational multicentre registryVentricular systolic impairmentSevere clinical courseMulticentre registryNew onsetRespiratory failureAdverse eventsICU careAssociation class
2021
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation
Thompson AD, Helms AS, Kannan A, Yob J, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Mazzarotto F, Olivotto I, Ho CY, Day SM. Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation. Genetics In Medicine 2021, 23: 1281-1287. PMID: 33782553, PMCID: PMC8257482, DOI: 10.1038/s41436-021-01134-9.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathyClinical riskMissense variantsSarcomeric Human Cardiomyopathy RegistryHigh clinical riskClinical risk stratificationAdverse eventsComposite endpointRisk stratificationHCM patientsCommon causePatientsLoss of functionUncertain significanceMYBPC3Missense VUSCardiomyopathyHigh rateSubstantial numberSupportive evidenceVUSRiskVariant interpretationEvent analysisMethodsAmongClinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy
Marston NA, Han L, Olivotto I, Day SM, Ashley EA, Michels M, Pereira AC, Ingles J, Semsarian C, Jacoby D, Colan SD, Rossano JW, Wittekind SG, Ware JS, Saberi S, Helms AS, Ho CY. Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy. European Heart Journal 2021, 42: 1988-1996. PMID: 33769460, PMCID: PMC8139852, DOI: 10.1093/eurheartj/ehab148.Peer-Reviewed Original ResearchConceptsChildhood-onset hypertrophic cardiomyopathyLife-threatening ventricular arrhythmiasHeart failureHypertrophic cardiomyopathyAtrial fibrillationVentricular arrhythmiasComposite endpointHCM patientsRisk of HFSarcomeric Human Cardiomyopathy RegistryNatural historyAdvanced HF therapiesOverall composite outcomeObservational cohort studyClinical risk stratificationHypertrophic cardiomyopathy patientsAge of diagnosisVentricular assist deviceAdult-onset diseaseHF therapyClinical characteristicsCohort studyComposite outcomeBaseline visitRisk stratification
2020
Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy
Lakdawala NK, Olivotto I, Day SM, Han L, Ashley EA, Michels M, Ingles J, Semsarian C, Jacoby D, Jefferies JL, Colan SD, Pereira AC, Rossano JW, Wittekind S, Ware JS, Saberi S, Helms AS, Cirino AL, Leinwand LA, Seidman CE, Ho CY. Associations Between Female Sex, Sarcomere Variants, and Clinical Outcomes in Hypertrophic Cardiomyopathy. Circulation Genomic And Precision Medicine 2020, 14: e003062. PMID: 33284039, DOI: 10.1161/circgen.120.003062.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathyClinical outcomesNew York Heart Association IIIImplantable cardioverter-defibrillator utilizationSevere heart failure symptomsHeart failure symptomsReduced ejection fractionRetrospective cohort studyImpact of sexSex-based differencesHCM centersCause mortalityTract obstructionBaseline characteristicsCohort studyEjection fractionHeart failureVentricular arrhythmiasFemale sexHCM patientsMyocardial performanceFailure symptomsInternational registrySarcomere variantsHigh burdenAppropriate and inappropriate shocks in hypertrophic cardiomyopathy patients with subcutaneous implantable cardioverter-defibrillators: An international multicenter study
Nazer B, Dale Z, Carrassa G, Reza N, Ustunkaya T, Papoutsidakis N, Gray A, Howell SJ, Elman MR, Pieragnoli P, Ricciardi G, Jacoby D, Frankel DS, Owens A, Olivotto I, Heitner SB. Appropriate and inappropriate shocks in hypertrophic cardiomyopathy patients with subcutaneous implantable cardioverter-defibrillators: An international multicenter study. Heart Rhythm 2020, 17: 1107-1114. PMID: 32084597, PMCID: PMC8052990, DOI: 10.1016/j.hrthm.2020.02.008.Peer-Reviewed Original ResearchConceptsSecondary prevention patientsAdjusted odds ratioT-wave inversionAppropriate shocksInappropriate shocksHCM patientsR-wave amplitudeHypertrophic cardiomyopathyS-ICDsCardiology/American Heart Association criteriaElectrocardiographic R-wave amplitudeAmerican Heart Association criteriaHCM Risk-SCD scorePrimary prevention patientsS-ICD shocksAbnormal T-wave inversionSustained ventricular arrhythmiasSudden cardiac deathS-ICD implantationHypertrophic cardiomyopathy patientsInternational multicenter studyT-wave oversensingYounger patientsCardiac deathIndependent predictorsAccess and Outcomes Among Hypertrophic Cardiomyopathy Patients in a Large Integrated Health System
Thomas A, Papoutsidakis N, Spatz E, Testani J, Soucier R, Chou J, Ahmad T, Darr U, Hu X, Li F, Chen ME, Bellumkonda L, Sumathipala A, Jacoby D. Access and Outcomes Among Hypertrophic Cardiomyopathy Patients in a Large Integrated Health System. Journal Of The American Heart Association 2020, 9: e014095. PMID: 31973610, PMCID: PMC7033886, DOI: 10.1161/jaha.119.014095.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCardiomyopathy, HypertrophicCause of DeathConnecticutDelivery of Health Care, IntegratedFemaleHealthcare DisparitiesHeart Disease Risk FactorsHospitalizationHumansMaleMiddle AgedOutcome and Process Assessment, Health CareReferral and ConsultationRetrospective StudiesRisk AssessmentSocial ClassSocial Determinants of HealthTreatment OutcomeConceptsSpecialty careHCM patientsCare cohortHypertrophic cardiomyopathyYale New Haven Health SystemLarge integrated health systemHealth systemBackground Hypertrophic cardiomyopathyRetrospective cohort studySocioeconomic statusPatients' socioeconomic statusHigher socioeconomic status groupsHypertrophic cardiomyopathy patientsIntegrated health systemSpecialty care accessSocioeconomic status groupsMedical insurance providersCardiomyopathy clinicCause deathLSES patientsCause hospitalizationCause mortalityNoncardiac causesCohort studySecondary outcomes
2019
Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude
Papoutsidakis N, Heitner S, Ingles J, Semsarian C, Mannello M, Salberg L, Waldman C, Vaccaro B, Maurizi N, Olivotto I, Jacoby D. Participation in thrill-seeking activities by patients with hypertrophic cardiomyopathy: Individual preferences, adverse events and physician attitude. American Heart Journal 2019, 214: 28-35. PMID: 31152873, DOI: 10.1016/j.ahj.2019.04.001.Peer-Reviewed Original ResearchConceptsMinor adverse eventsMajor adverse eventsAdverse eventsHCM patientsHypertrophic cardiomyopathyThrill-seeking activitiesPhysician adviceSudden cardiac deathAdult HCM patientsShared-decision makingTime of surveyCardiac deathDefinitive recommendationsRisk factorsHCM diagnosisSafety dataPhysicians' attitudesPatientsAnonymous online surveyReporting participationSame dayCardiomyopathySpecific adviceParticipantsAdvice