2024
Qualitative interview study of patient-reported symptoms, impacts and treatment goals of patients with obstructive hypertrophic cardiomyopathy
Shore S, Ervin C, Kosa K, Fehnel S, Salberg L, Butzner M, Heitner S, Jacoby D, Saberi S. Qualitative interview study of patient-reported symptoms, impacts and treatment goals of patients with obstructive hypertrophic cardiomyopathy. BMJ Open 2024, 14: e081323. PMID: 39289016, PMCID: PMC11409399, DOI: 10.1136/bmjopen-2023-081323.Peer-Reviewed Original ResearchConceptsQualitative interview studyTreatment goalsShortness of breathTreatment goals of patientsInterview studyAffecting health statusGoals of patientsHypertrophic Cardiomyopathy AssociationPatient-reported symptomsSemi-structured interviewsPhysical functionPatient experiencePatient perspectiveSymptom burdenUS adultsObstructive HCMObstructive hypertrophic cardiomyopathyHealth statusTelephone interviewsPsychosocial impactChest pain/pressureLifestyle-limiting symptomsHypertrophic cardiomyopathyImproving shortness of breathDizziness/light-headedness
2022
Correlates of cognition among people with chronic heart failure and insomnia
Geer JH, Jeon S, O’Connell M, Linsky S, Conley S, Hollenbeak CS, Jacoby D, Yaggi HK, Redeker NS. Correlates of cognition among people with chronic heart failure and insomnia. Sleep And Breathing 2022, 27: 1287-1296. PMID: 36214945, PMCID: PMC10084469, DOI: 10.1007/s11325-022-02716-w.Peer-Reviewed Original ResearchConceptsChronic heart failureHigher body mass indexHeart failureBody mass indexQuality of lifeMass indexDaytime sleepinessNew York Heart Association class ICognitive impairmentSignificant risk factorsNon-white raceSelf-reported cognitive impairmentInsomnia Severity IndexSleep disturbance questionnaireCross-sectional analysisCognitive behavioral therapyFrequency of lapsesMedical comorbiditiesCommon comorbiditiesClinical factorsEjection fractionPulmonary diseaseMultivariable analysisRisk factorsSleep characteristicsImpact 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 classSleep Characteristics, Mood, Somatic Symptoms, and Self-Care Among People With Heart Failure and Insomnia
Breazeale S, Jeon S, Hwang Y, O’Connell M, Nwanaji-Enwerem U, Linsky S, Yaggi HK, Jacoby DL, Conley S, Redeker NS. Sleep Characteristics, Mood, Somatic Symptoms, and Self-Care Among People With Heart Failure and Insomnia. Nursing Research 2022, 71: 189-199. PMID: 35149627, PMCID: PMC9038676, DOI: 10.1097/nnr.0000000000000585.Peer-Reviewed Original ResearchConceptsSelf-care maintenanceStable heart failureSelf-care confidenceVentricular ejection fractionHeart failureChronic insomniaSleep characteristicsSomatic symptomsClinical factorsEjection fractionLeft ventricular ejection fractionChronic heart failureSelf-care behaviorsPoor sleep characteristicsSymptoms of anxietyCross-sectional designSleep disturbancesSingle symptomWhite raceHigh riskCombined associationsInsomnia severityInsomniaSymptomsHealthcare needsSymptom Cluster Profiles Among Adults with Insomnia and Heart Failure
Conley S, Jeon S, Breazeale S, O’Connell M, Hollenbeak CS, Jacoby D, Linsky S, Yaggi HK, Redeker NS. Symptom Cluster Profiles Among Adults with Insomnia and Heart Failure. Behavioral Sleep Medicine 2022, 21: 150-161. PMID: 35388730, PMCID: PMC9537348, DOI: 10.1080/15402002.2022.2060226.Peer-Reviewed Original ResearchConceptsHigh symptom burdenHeart failureSymptom burdenSleep characteristicsLower symptom burdenChronic heart failureStable heart failureBody mass indexTreatment of insomniaStudy of insomniaHigh symptom profileCognitive behavioral therapyBeta blockersClinical characteristicsDaytime symptomsMass indexSevere insomniaSingle symptomInsomnia severitySymptom profilesInsomniaSymptom clustersBehavioral therapyHigher symptomsSymptoms
2021
Impact of Obesity on Heart Transplantation Outcomes
Chouairi F, Milner A, Sen S, Guha A, Stewart J, Jastreboff AM, Mori M, Clark KA, Miller PE, Fuery MA, Rogers JG, Notarianni A, Jacoby D, Maulion C, Anwer M, Geirsson A, Desai NR, Ahmad T, Mullan CW. Impact of Obesity on Heart Transplantation Outcomes. Journal Of The American Heart Association 2021, 10: e021346. PMID: 34854316, PMCID: PMC9075353, DOI: 10.1161/jaha.121.021346.Peer-Reviewed Original ResearchConceptsBody mass indexHigher BMI categoriesImpact of obesityHeart transplantation outcomesBMI categoriesTransplantation outcomesHeart transplantationHigher body mass indexAllocation system changeAdvanced heart failureOrgan Sharing databaseObese BMI categoriesVentricular assist deviceNew Organ ProcurementPosttransplant deathPosttransplantation deathPosttransplant mortalityBackground PatientsBMI 18.5Adult patientsCohort studyHeart failureHeart transplantSharing databaseWaitlist deathsCognitive behavioral therapy for insomnia has sustained effects on insomnia, fatigue, and function among people with chronic heart failure and insomnia: the HeartSleep Study
Redeker NS, Yaggi HK, Jacoby D, Hollenbeak CS, Breazeale S, Conley S, Hwang Y, Iennaco J, Linsky S, Nwanaji-Enwerem U, O’Connell M, Jeon S. Cognitive behavioral therapy for insomnia has sustained effects on insomnia, fatigue, and function among people with chronic heart failure and insomnia: the HeartSleep Study. Sleep 2021, 45: zsab252. PMID: 34657160, PMCID: PMC8754495, DOI: 10.1093/sleep/zsab252.Peer-Reviewed Original ResearchConceptsChronic heart failureSix-minute walk distanceStable heart failureHeart failureInsomnia severityWalk distanceSleep characteristicsSelf-reported sleep latencyGeneral linear mixed modelSelf-reported sleep characteristicsMonths of treatmentSelf-management educationSelf-management programSleep hygiene educationCognitive behavioral therapyEjection fractionPrimary outcomeDaytime symptomsExcessive daytimePhysical functionDaytime sleepinessSleep latencyMild insomniaSleep qualitySleep efficiencyMavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial
Spertus JA, Fine JT, Elliott P, Ho CY, Olivotto I, Saberi S, Li W, Dolan C, Reaney M, Sehnert AJ, Jacoby D. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial. The Lancet 2021, 397: 2467-2475. PMID: 34004177, DOI: 10.1016/s0140-6736(21)00763-7.Peer-Reviewed Original ResearchConceptsKansas City Cardiomyopathy QuestionnaireSymptomatic obstructive hypertrophic cardiomyopathyObstructive hypertrophic cardiomyopathyHypertrophic cardiomyopathyPatients' health statusQuality of lifeHealth statusWeek 30KCCQ overall summary scoreAvailable pharmacological optionsKCCQ-OS scorePlacebo-controlled trialPhase 3 trialProportion of patientsPrimary treatment goalOverall summary scoreDisease-specific measuresEffect of mavacamtenHealth status analysisNew potential strategyEXPLORER-HCMPlacebo groupAdult patientsBristol-Myers Squibb CompanyPharmacological optionsBiobank Scale Pharmacogenomics Informs the Genetic Underpinnings of Simvastatin Use
Wendt FR, Koller D, Pathak GA, Jacoby D, Miller EJ, Polimanti R. Biobank Scale Pharmacogenomics Informs the Genetic Underpinnings of Simvastatin Use. Clinical Pharmacology & Therapeutics 2021, 110: 777-785. PMID: 33837531, PMCID: PMC8376807, DOI: 10.1002/cpt.2260.Peer-Reviewed Original ResearchConceptsLDL-C concentrationsSimvastatin useLow-density lipoprotein cholesterol concentrationsLipoprotein cholesterol concentrationsDrug-metabolizing enzymesElectronic medical recordsStatin therapyStatin treatmentActivity scoreMedical recordsPilot cohortCholesterol concentrationsEuropean ancestry participantsMetabolizer phenotypeClinical decisionNAT2 allelesPolygenic riskNAT2Good responseUK BiobankBiological mechanismsPharmacogenesAssociationPotential benefitsPhenotypeGenetic 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 counselingClinical 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 stratificationChanges in Use of Left Ventricular Assist Devices as Bridge to Transplantation With New Heart Allocation Policy
Mullan CW, Chouairi F, Sen S, Mori M, Clark KAA, Reinhardt SW, Miller PE, Fuery MA, Jacoby D, Maulion C, Anwer M, Geirsson A, Mulligan D, Formica R, Rogers JG, Desai NR, Ahmad T. Changes in Use of Left Ventricular Assist Devices as Bridge to Transplantation With New Heart Allocation Policy. JACC Heart Failure 2021, 9: 420-429. PMID: 33714748, DOI: 10.1016/j.jchf.2021.01.010.Peer-Reviewed Original ResearchConceptsDonor heart allocation systemNumber of patientsHeart allocation systemVentricular assist deviceWaitlist survivalAssist deviceNew heart allocation policyLeft ventricular assist deviceAllocation system changePost-transplant mortalityOrgan Sharing databaseOutcomes of patientsPost-transplantation outcomesProportion of patientsTime of transplantContinuous-flow LVADPost-transplantation survivalHeart allocation policyNew allocation systemBaseline recipientStatus 1AHeart transplantationIschemic timeLVAD implantationTransplant listImpact of the new heart allocation policy on patients with restrictive, hypertrophic, or congenital cardiomyopathies
Chouairi F, Mullan CW, Sen S, Mori M, Fuery M, Elder RW, Lesse J, Norton K, Clark KA, Miller PE, Mulligan D, Formica R, Rogers JG, Jacoby D, Maulion C, Anwer M, Geirsson A, Desai NR, Ahmad T. Impact of the new heart allocation policy on patients with restrictive, hypertrophic, or congenital cardiomyopathies. PLOS ONE 2021, 16: e0247789. PMID: 33651802, PMCID: PMC7924739, DOI: 10.1371/journal.pone.0247789.Peer-Reviewed Original ResearchConceptsCongenital heart diseaseAllocation system changeHeart allocation systemNew heart allocation policyNew heart allocation systemTransplantation of patientsOrgan Sharing databasePost-transplantation outcomesPost-transplant survivalTime of transplantationMechanical circulatory supportRate of transplantationNumber of patientsHeart allocation policyNew allocation systemStatus 1ACardiac transplantAdult patientsSharing databaseWaitlist survivalCirculatory supportClinical benefitCongenital cardiomyopathyUnited NetworkCHD patients
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 burdenTemporal 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 phenotypeAgePatientsEvaluation of Case Volumes of a Heart Transplant Program and Short-term Outcomes After Changes in the United Network for Organ Sharing Donor Heart Allocation System
Mori M, Wilson L, Ali A, Ahmad T, Anwer M, Jacoby D, Geirsson A, Krumholz HM. Evaluation of Case Volumes of a Heart Transplant Program and Short-term Outcomes After Changes in the United Network for Organ Sharing Donor Heart Allocation System. JAMA Network Open 2020, 3: e2017513. PMID: 32945877, PMCID: PMC7501535, DOI: 10.1001/jamanetworkopen.2020.17513.Peer-Reviewed Original ResearchConceptsYale-New Haven HospitalHeart transplant programShort-term outcomesHeart transplantHeart transplant volumeNew Haven HospitalDonor heartsPatient selectionRecipient selectionTransplant programsTransplant volumeWaiting listCase volumeDonor heart allocation systemPre-post cohort studyConservative patient selectionUnused donor heartsHeart allocation systemHigher median numberCirculatory assist devicesCohort studyPatient characteristicsMore patientsSingle centerCenter volumeSpatial 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 myocytesDifferential Impact of Class I and Class II Panel Reactive Antibodies on Post-Heart Transplant Outcomes
Ivey-Miranda JB, Kunnirickal S, Bow L, Maulion C, Testani JM, Jacoby D, Kransdorf EP, Bellumkonda L. Differential Impact of Class I and Class II Panel Reactive Antibodies on Post-Heart Transplant Outcomes. Journal Of Cardiac Failure 2020, 27: 40-47. PMID: 32750489, DOI: 10.1016/j.cardfail.2020.07.012.Peer-Reviewed Original ResearchConceptsPanel reactive antibodyCause mortalityReactive antibodiesClass IClass II panel reactive antibodiesAdult heart transplant patientsPost-heart transplant outcomesClass IIRejection-related mortalityHeart transplant patientsOrgan Sharing dataHeart transplantationTransplant outcomesTransplant patientsSensitized patientsUnited NetworkIsolated elevationHigh riskGroup 2Group 1High mortalityCombined elevationGroup 4MortalityPatientsEvaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy
Ho CY, Mealiffe ME, Bach RG, Bhattacharya M, Choudhury L, Edelberg JM, Hegde SM, Jacoby D, Lakdawala NK, Lester SJ, Ma Y, Marian AJ, Nagueh SF, Owens A, Rader F, Saberi S, Sehnert AJ, Sherrid MV, Solomon SD, Wang A, Wever-Pinzon O, Wong TC, Heitner SB. Evaluation of Mavacamten in Symptomatic Patients With Nonobstructive Hypertrophic Cardiomyopathy. Journal Of The American College Of Cardiology 2020, 75: 2649-2660. PMID: 32466879, DOI: 10.1016/j.jacc.2020.03.064.Peer-Reviewed Original ResearchConceptsNonobstructive hypertrophic cardiomyopathyGeometric mean differencePlacebo groupHypertrophic cardiomyopathyN-terminal pro-B-type natriuretic peptidePro-B-type natriuretic peptidePg/Mean differencePhase II studySerious adverse eventsVentricular ejection fractionMyocardial wall stressDose titrationNT-proBNPAdverse eventsII studySymptomatic patientsEjection fractionPharmacological therapyClinical parametersInitial doseNatriuretic peptideMean ageHigh burdenMavacamtenDesmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy
Smith ED, Lakdawala NK, Papoutsidakis N, Aubert G, Mazzanti A, McCanta AC, Agarwal PP, Arscott P, Dellefave-Castillo LM, Vorovich EE, Nutakki K, Wilsbacher LD, Priori SG, Jacoby DL, McNally EM, Helms AS. Desmoplakin Cardiomyopathy, a Fibrotic and Inflammatory Form of Cardiomyopathy Distinct From Typical Dilated or Arrhythmogenic Right Ventricular Cardiomyopathy. Circulation 2020, 141: 1872-1884. PMID: 32372669, PMCID: PMC7286080, DOI: 10.1161/circulationaha.119.044934.Peer-Reviewed Original ResearchConceptsLV late gadolinium enhancementLate gadolinium enhancementSevere ventricular arrhythmiasAcute myocardial injuryMyocardial injuryRight ventricular cardiomyopathyVentricular arrhythmiasGadolinium enhancementVentricular cardiomyopathyEjection fractionSevere arrhythmiasFrequent premature ventricular contractionsPathogenic plakophilin-2 mutationNormal LV systolic functionLeft ventricle ejection fractionRight ventricular ejection fractionPositron emission tomography scanArrhythmogenic right ventricular cardiomyopathyNormal ventricular functionLV systolic functionVentricle ejection fractionVentricular ejection fractionEmission tomography scanSmall case seriesPlakophilin-2 mutations