2021
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala NK, Kapur S, Michels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day S, Olivotto I, Ho CY. Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal 2021, 42: 3932-3944. PMID: 36282238, DOI: 10.1093/eurheartj/ehab598.Peer-Reviewed Original ResearchConceptsSudden cardiac deathAppropriate ICD therapyNon-US sitesHypertrophic cardiomyopathyUS sitesICD therapySCD riskICD recipientsImplantation rateImplantable cardioverter-defibrillator (ICD) implantation ratesMultivariable Cox proportional hazards modelsImplantable cardioverter-defibrillator utilizationSarcomeric Human Cardiomyopathy RegistryCox proportional hazards modelHCM Risk-SCD scoreICD implantation ratesPrimary prevention ICDsSCD risk factorsRisk stratification algorithmLong-term outcomesLow-risk populationSignificant differencesSCD/Cardiac deathClinical outcomesWorldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy
Nauffal V, Marstrand P, Han L, Parikh VN, Helms AS, Ingles J, Jacoby D, Lakdawala NK, Kapur S, Michels M, Owens AT, Ashley EA, Pereira AC, Rossano JW, Saberi S, Semsarian C, Ware JS, Wittekind SG, Day S, Olivotto I, Ho CY. Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy. European Heart Journal 2021, 42: 3932-3944. PMID: 34491319, PMCID: PMC8497072, DOI: 10.1093/eurheartj/ehab598.Peer-Reviewed Original ResearchConceptsSudden cardiac deathAppropriate ICD therapyNon-US sitesHypertrophic cardiomyopathyUS sitesICD therapySCD riskICD recipientsImplantation rateImplantable cardioverter-defibrillator (ICD) implantation ratesMultivariable Cox proportional hazards modelsImplantable cardioverter-defibrillator utilizationSarcomeric Human Cardiomyopathy RegistryCox proportional hazards modelHCM Risk-SCD scoreICD implantation ratesPrimary prevention ICDsSCD risk factorsRisk stratification algorithmLong-term outcomesLow-risk populationSignificant differencesSCD/Cardiac deathClinical outcomesComputational 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
Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy
Canepa M, Fumagalli C, Tini G, Vincent-Tompkins J, Day SM, Ashley EA, Mazzarotto F, Ware JS, Michels M, Jacoby D, Ho CY, Olivotto I, Investigators T. Temporal Trend of Age at Diagnosis in Hypertrophic Cardiomyopathy. Circulation Heart Failure 2020, 13: e007230-e007230. PMID: 32894986, PMCID: PMC7497482, DOI: 10.1161/circheartfailure.120.007230.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathyHCM diagnosisSarcomeric Human Cardiomyopathy RegistryGenetic testingHeart failure symptomsObstructive hypertrophic cardiomyopathyNon-US sitesEra of diagnosisLikely pathogenic variantsClinical characteristicsOlder patientsFamilial hypertrophic cardiomyopathyHCM populationVentricular hypertrophyFemale ratioFailure symptomsSporadic diseasePathogenic variantsAdvanced diagnostic toolsDiagnosisTemporal trendsStable maleMild phenotypeAgePatientsSpatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy
Helms AS, Thompson AD, Glazier AA, Hafeez N, Kabani S, Rodriguez J, Yob JM, Woolcock H, Mazzarotto F, Lakdawala NK, Wittekind SG, Pereira AC, Jacoby DL, Colan SD, Ashley EA, Saberi S, Ware JS, Ingles J, Semsarian C, Michels M, Olivotto I, Ho CY, Day SM. Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients with Hypertrophic Cardiomyopathy. Circulation Genomic And Precision Medicine 2020, 13: 396-405. PMID: 32841044, PMCID: PMC7676622, DOI: 10.1161/circgen.120.002929.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathyPathogenic variantsClinical outcomesSarcomeric Human Cardiomyopathy RegistryTruncating variantsHypertrophic cardiomyopathy cohortAdverse event ratesSimilar clinical severityDetailed genotype-phenotype correlationRat ventricular myocytesC10 domainCardiomyopathy cohortGenotype-phenotype correlationMyofilament incorporationFamilial hypertrophic cardiomyopathyClinical severityGenotyped patientsCommon causeMorphological severityTime-event analysisCardiac morphologyPatientsLoss of functionCardiomyopathyVentricular myocytesAssociation of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy
Fumagalli C, Maurizi N, Day SM, Ashley EA, Michels M, Colan SD, Jacoby D, Marchionni N, Vincent-Tompkins J, Ho CY, Olivotto I. Association of Obesity With Adverse Long-term Outcomes in Hypertrophic Cardiomyopathy. JAMA Cardiology 2020, 5: 65-72. PMID: 31693057, PMCID: PMC6865784, DOI: 10.1001/jamacardio.2019.4268.Peer-Reviewed Original ResearchMeSH KeywordsAdultArrhythmias, CardiacAtrial FibrillationBody Mass IndexCardiomyopathy, HypertrophicCohort StudiesDeath, Sudden, CardiacDefibrillators, ImplantableDisease ProgressionElectric CountershockFemaleHeart ArrestHeart FailureHeart TransplantationHeart-Assist DevicesHumansMaleMiddle AgedMortalityObesityRetrospective StudiesStrokeStroke VolumeVentricular Outflow ObstructionConceptsOverall composite outcomeLong-term outcomesHypertrophic cardiomyopathyComposite outcomeObstructive physiologyAdverse outcomesSarcomeric Human Cardiomyopathy RegistryAdverse long-term outcomesLong-term adverse outcomesLife-threatening ventricular arrhythmiasHeart failure outcomesHeart failure symptomsAssociation of obesityDisease-related complicationsNormal weight groupBody mass indexOverall disease progressionBody weight increaseHCM centersAtrium diameterBaseline BMIObesity groupCardiovascular mortalityCohort studyMass indexAssociation of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy
Eberly LA, Day SM, Ashley EA, Jacoby DL, Jefferies JL, Colan SD, Rossano JW, Semsarian C, Pereira AC, Olivotto I, Ingles J, Seidman CE, Channaoui N, Cirino AL, Han L, Ho CY, Lakdawala NK. Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy. JAMA Cardiology 2020, 5: 83-91. PMID: 31799990, PMCID: PMC6902181, DOI: 10.1001/jamacardio.2019.4638.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedAtrial FibrillationBlack or African AmericanCardiomyopathy, HypertrophicCohort StudiesDeath, Sudden, CardiacDefibrillators, ImplantableFemaleGenetic TestingHealth Services AccessibilityHealthcare DisparitiesHeart FailureHeart SeptumHeart TransplantationHeart-Assist DevicesHumansMaleMiddle AgedMortalityPhenotypeQuality of Health CareStrokeUnited StatesWhite PeopleConceptsNYHA class IIIAssociation of raceVentricular assist device implantationOverall composite outcomeSeptal reduction therapyAssist device implantationHeart failureBlack patientsHypertrophic cardiomyopathyCause mortalityWhite patientsAtrial fibrillationClass IIICardiac transplantationGenetic testingComposite outcomeClinical outcomesDisease expressionDevice implantationReduction therapyNew York Heart Association functional class IIIMultivariable Cox proportional hazards regressionInvasive septal reduction therapySarcomeric Human Cardiomyopathy RegistryImplantable cardioverter-defibrillator therapy
2019
Response by Ho et al to Letter Regarding Article, “Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)”
Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Lakdawala NK, Ware JS, Helms AS, Colan SD, Seidman CE, Olivotto I, Investigators F. Response by Ho et al to Letter Regarding Article, “Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights From the Sarcomeric Human Cardiomyopathy Registry (SHaRe)”. Circulation 2019, 139: 1559-1560. PMID: 30883221, PMCID: PMC6445361, DOI: 10.1161/circulationaha.118.039069.Peer-Reviewed Case Reports and Technical NotesConceptsSarcomeric Human Cardiomyopathy RegistryLifetime burdenHypertrophic cardiomyopathyCardiomyopathyRegistry