2022
Pragmatic randomized trial assessing the impact of digital health technology on quality of life in patients with heart failure: Design, rationale and implementation
Victoria‐Castro A, Martin M, Yamamoto Y, Ahmad T, Arora T, Calderon F, Desai N, Gerber B, Lee KA, Jacoby D, Melchinger H, Nguyen A, Shaw M, Simonov M, Williams A, Weinstein J, Wilson FP. Pragmatic randomized trial assessing the impact of digital health technology on quality of life in patients with heart failure: Design, rationale and implementation. Clinical Cardiology 2022, 45: 839-849. PMID: 35822275, PMCID: PMC9346973, DOI: 10.1002/clc.23848.Peer-Reviewed Original ResearchConceptsQuality of lifeHF patientsYale New Haven Health SystemKansas City Cardiomyopathy QuestionnaireDigital health technologiesHeart failure careHealth technologiesDigital health interventionsDisease exacerbationHF clinicUsual carePrimary outcomeClinical outcomesHeart failurePatient engagementPatientsHealth interventionsDigital health toolsPatient empowermentHealth systemPatient usabilityHealth toolsEarly detectionFirst enrollmentHealthcare system
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 outcomesGenetic and Phenotypic Landscape of Peripartum Cardiomyopathy
Goli R, Li J, Brandimarto J, Levine LD, Riis V, McAfee Q, DePalma S, Haghighi A, Seidman JG, Seidman CE, Jacoby D, Macones G, Judge DP, Rana S, Margulies KB, Cappola TP, Alharethi R, Damp J, Hsich E, Elkayam U, Sheppard R, Alexis JD, Boehmer J, Kamiya C, Gustafsson F, Damm P, Ersbøll AS, Goland S, Hilfiker-Kleiner D, McNamara DM, Investigators T, Arany Z. Genetic and Phenotypic Landscape of Peripartum Cardiomyopathy. Circulation 2021, 143: 1852-1862. PMID: 33874732, PMCID: PMC8113098, DOI: 10.1161/circulationaha.120.052395.Peer-Reviewed Original ResearchConceptsPeripartum cardiomyopathyClinical presentationRisk factorsPrevalence of preeclampsiaVentricular ejection fractionStrong risk factorImportant risk factorTiming of presentationInternational academic centersPrevalence of TTNtvClinical recoveryHeart failureClinical outcomesEjection fractionInclusion criteriaTherapeutic approachesClinical informationGenotype/phenotype associationsAcademic centersTTNtvCardiomyopathyTruncating variantsGenetic testingWomenGenetic counseling
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 burdenSpatial 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 myocytesMyosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy
Toepfer CN, Garfinkel AC, Venturini G, Wakimoto H, Repetti G, Alamo L, Sharma A, Agarwal R, Ewoldt JF, Cloonan P, Letendre J, Lun M, Olivotto I, Colan S, Ashley E, Jacoby D, Michels M, Redwood CS, Watkins HC, Day SM, Staples JF, Padrón R, Chopra A, Ho CY, Chen CS, Pereira AC, Seidman JG, Seidman CE. Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy. Circulation 2020, 141: 828-842. PMID: 31983222, PMCID: PMC7077965, DOI: 10.1161/circulationaha.119.042339.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphatasesAnimalsCardiac MyosinsCardiomyopathy, HypertrophicCells, CulturedEnergy MetabolismHumansInduced Pluripotent Stem CellsMiceMolecular Dynamics SimulationMuscle RelaxationMutation, MissenseMyocardial ContractionMyocytes, CardiacMyosin Heavy ChainsProtein ConformationSarcomeresConceptsProportion of myosinAdverse clinical outcomesHypertrophic cardiomyopathyHeart failureUnknown clinical significanceClinical outcomesClinical significancePathogenic variantsSarcomere functionSarcomere protein genesPathogenic missense variantsMyosin missense mutationsHemodynamic requirementsImpaired relaxationContractile abnormalitiesHealthy rodentsHypertrophic remodelingHemodynamic demandsPatient riskPoor relaxationCardiomyocyte contractilityHeart functionMyosin ATPase activityPatientsAllosteric modulatorsAssociation 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