2024
Standard-of-Care Medication Withdrawal in Patients With Obstructive Hypertrophic Cardiomyopathy Receiving Aficamten in FOREST-HCM
Masri A, Choudhury L, Barriales-Villa R, Elliott P, Maron M, Nassif M, Oreziak A, Owens A, Saberi S, Tower-Rader A, Rader F, Garcia-Pavia P, Olivotto I, Nagueh S, Wang A, Heitner S, Jacoby D, Kupfer S, Malik F, Melloni C, Meng L, Wei J, Sherrid M, Abraham T, Investigators F. Standard-of-Care Medication Withdrawal in Patients With Obstructive Hypertrophic Cardiomyopathy Receiving Aficamten in FOREST-HCM. Journal Of The American College Of Cardiology 2024, 84: 1839-1849. PMID: 39477631, DOI: 10.1016/j.jacc.2024.09.002.Peer-Reviewed Original ResearchConceptsObstructive hypertrophic cardiomyopathyKansas City Cardiomyopathy Questionnaire-Clinical Summary ScoreStandard-of-careSOC therapyAdverse eventsDose reductionTherapy withdrawalHypertrophic cardiomyopathyTreatment of obstructive hypertrophic cardiomyopathyPro-B-type natriuretic peptide levelsN-terminal pro-B-type natriuretic peptide levelsTreatment-emergent adverse eventsHigh-sensitivity troponin IOutflow tract gradientEmergent adverse eventsNYHA functional classFirst-line therapyNatriuretic peptide levelsOff-target side effectsSummary scoreControlled clinical trialsMeasures of efficacyClinical measures of efficacyStable doseNo withdrawalsQualitative 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-headednessAficamten for Obstructive Hypertrophic Cardiomyopathy. Reply.
Maron M, Coats C, Jacoby D. Aficamten for Obstructive Hypertrophic Cardiomyopathy. Reply. New England Journal Of Medicine 2024, 391: 665-666. PMID: 39141865, DOI: 10.1056/nejmc2408094.Peer-Reviewed Original Research
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 characteristicsThe Yale Roadmap for Health Psychology and Integrated Cardiovascular Care
Gaffey AE, Harris KM, Mena-Hurtado C, Sinha R, Jacoby DL, Smolderen KG. The Yale Roadmap for Health Psychology and Integrated Cardiovascular Care. Health Psychology 2022, 41: 779-791. PMID: 35201804, DOI: 10.1037/hea0001152.Peer-Reviewed Original ResearchConceptsCardiovascular careCardiovascular diseaseHealth care systemRisk factorsBehavioural risk factor managementTraditional atherosclerotic risk factorsWagner's Chronic Care ModelCare systemAtherosclerotic risk factorsRisk factor managementChronic Care ModelCause of morbidityMental health burdenBehavioral risk factorsChronic cardiovascular diseaseHigh-intensity careAdverse health outcomesMental health disordersHealth psychologyEvidence-based approachComplex multimorbidityRisk patientsCardiovascular populationFactor managementChronic diseasesPragmatic 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 systemImpact 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 classSarcomere protein modulation: The new frontier in cardiovascular medicine and beyond
Morelli C, Ingrasciotta G, Jacoby D, Masri A, Olivotto I. Sarcomere protein modulation: The new frontier in cardiovascular medicine and beyond. European Journal Of Internal Medicine 2022, 102: 1-7. PMID: 35534374, DOI: 10.1016/j.ejim.2022.04.020.Peer-Reviewed Original ResearchConceptsHeart failureCardiovascular medicineVentricular outflow obstructionHeart muscle diseaseDegenerative neuromuscular diseaseSpecific disease mechanismsCardiovascular deathOutflow obstructionSystolic functionRandomized trialsUnderlying pathophysiologyCardiac patientsOmecamtiv mecarbilHypertrophic cardiomyopathyFunctional capacityNeuromuscular diseaseMuscle diseaseAvailable evidenceContractile proteinsSkeletal muscleTranslational researchPromising targetDiseaseDisease mechanismsFailureSleep 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 symptomsSymptomsMuscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy
Riaz M, Park J, Sewanan LR, Ren Y, Schwan J, Das SK, Pomianowski PT, Huang Y, Ellis MW, Luo J, Liu J, Song L, Chen IP, Qiu C, Yazawa M, Tellides G, Hwa J, Young LH, Yang L, Marboe CC, Jacoby DL, Campbell SG, Qyang Y. Muscle LIM Protein Force-Sensing Mediates Sarcomeric Biomechanical Signaling in Human Familial Hypertrophic Cardiomyopathy. Circulation 2022, 145: 1238-1253. PMID: 35384713, PMCID: PMC9109819, DOI: 10.1161/circulationaha.121.056265.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathySarcomeric mutationsFamilial hypertrophic cardiomyopathySudden cardiac deathCardiac myosin heavy chainMechanism-based treatmentsDevelopment of hypertrophyActivated T cellsCalcineurin-nuclear factorForce productionPhenotypic expressionPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesHeart failureCardiac deathVentricular hypertrophyCell-derived cardiomyocytesCardiac contractilityPharmacological interventionsT cellsCardiac diseaseCardiac hypertrophyPatient-specific induced pluripotent stem cellsPharmacological meansTwitch relaxation
2021
Risk and predictors of mortality after implantable cardioverter-defibrillator implantation in patients with sarcoid cardiomyopathy
Higgins AY, Annapureddy AR, Wang Y, Minges KE, Bellumkonda L, Lampert R, Rosenfeld LE, Jacoby DL, Curtis JP, Miller EJ, Freeman JV. Risk and predictors of mortality after implantable cardioverter-defibrillator implantation in patients with sarcoid cardiomyopathy. American Heart Journal 2021, 246: 21-31. PMID: 34968442, DOI: 10.1016/j.ahj.2021.12.011.Peer-Reviewed Original ResearchConceptsNon-ischemic cardiomyopathyAtrial fibrillation/flutterChronic lung diseaseCardiac sarcoidosisHeart failureCS patientsNICM patientsICD implantationLung diseaseNew York Heart Association class III heart failureNational Cardiovascular Data Registry ICD RegistryNYHA class IV heart failureClass III heart failureClass IV heart failureImplantable cardioverter defibrillator implantationKaplan-Meier survival curvesCox proportional hazards modelPredictors of mortalityCardioverter-defibrillator implantationVentricular ejection fractionMultivariable logistic regressionPrior ventricular arrhythmiasProportional hazards modelRate of deathTime of implantationThe integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression
Pathak GA, De Lillo A, Wendt FR, De Angelis F, Koller D, Mendoza B, Jacoby D, Miller EJ, Buxbaum JN, Polimanti R. The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepatic transthyretin expression. Amyloid 2021, 29: 110-119. PMID: 34935565, PMCID: PMC9213571, DOI: 10.1080/13506129.2021.2018678.Peer-Reviewed Original ResearchConceptsGenotype-Tissue Expression (GTEx) projectMulti-tissue analysisElectronic health recordsTTR amyloid formationGenetic regulationExpression projectRNA interferenceTranscriptomic profilesGene expressionExpression informationHepatic expressionHealth outcomesPhenotypic informationAmyloid formationHealth recordsCarpal tunnel syndromeTranscriptionTransthyretin expressionSystemic amyloidosesHepatic transcriptionPathological processesExpressionTunnel syndromeGastrointestinal diseasesSurgical proceduresImpact 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 deathsEffect of Mavacamten on Echocardiographic Features in Symptomatic Patients With Obstructive Hypertrophic Cardiomyopathy
Hegde SM, Lester SJ, Solomon SD, Michels M, Elliott PM, Nagueh SF, Choudhury L, Zemanek D, Zwas DR, Jacoby D, Wang A, Ho CY, Li W, Sehnert AJ, Olivotto I, Abraham TP. Effect of Mavacamten on Echocardiographic Features in Symptomatic Patients With Obstructive Hypertrophic Cardiomyopathy. Journal Of The American College Of Cardiology 2021, 78: 2518-2532. PMID: 34915982, DOI: 10.1016/j.jacc.2021.09.1381.Peer-Reviewed Original ResearchConceptsObstructive hypertrophic cardiomyopathySystolic anterior motionAnterior motionDiastolic functionHypertrophic cardiomyopathyN-terminal pro-B-type natriuretic peptideMitral valve systolic anterior motionPro-B-type natriuretic peptidePeak exercise oxygen consumptionLeft ventricular diastolic functionVentricular outflow tract obstructionKey echocardiographic parametersAtrial volume indexOutflow tract obstructionVentricular diastolic functionExercise oxygen consumptionEffect of mavacamtenMyocardial wall stressEXPLORER-HCMLVOT gradientEchocardiographic featuresEchocardiographic parametersLVOT obstructionTract obstructionExercise capacityCognitive 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 efficiencyWorldwide 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 outcomesLoss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation
Sewanan LR, Park J, Rynkiewicz MJ, Racca AW, Papoutsidakis N, Schwan J, Jacoby DL, Moore JR, Lehman W, Qyang Y, Campbell SG. Loss of crossbridge inhibition drives pathological cardiac hypertrophy in patients harboring the TPM1 E192K mutation. The Journal Of General Physiology 2021, 153: e202012640. PMID: 34319370, PMCID: PMC8321830, DOI: 10.1085/jgp.202012640.Peer-Reviewed Original ResearchConceptsHypertrophic cardiomyopathyHeart tissueCellular hypertrophyEngineered Heart TissuePathological cardiac hypertrophyThin filament mutationsMavacamten treatmentDiastolic dysfunctionDisease featuresHypertrophic effectCardiac hypertrophyContractile differencesHypertrophyFundamental disease mechanismsCrossbridge activityInherited disorderOverall Ca2Uncertain significancePatient phenotypesDisease mechanismsLow Ca2PatientsK mutationMavacamtenTissuePredictors of Major Atrial Fibrillation Endpoints in the National Heart, Lung, and Blood Institute HCMR
Kramer CM, DiMarco JP, Kolm P, Ho CY, Desai MY, Kwong RY, Dolman SF, Desvigne-Nickens P, Geller N, Kim DY, Maron MS, Appelbaum E, Jerosch-Herold M, Friedrich MG, Schulz-Menger J, Piechnik SK, Mahmod M, Jacoby D, White J, Chiribiri A, Helms A, Choudhury L, Michels M, Bradlow W, Salerno M, Dawson DK, Weinsaft JW, Berry C, Nagueh SF, Buccarelli-Ducci C, Owens A, Casadei B, Watkins H, Weintraub WS, Neubauer S, Investigators H. Predictors of Major Atrial Fibrillation Endpoints in the National Heart, Lung, and Blood Institute HCMR. JACC Clinical Electrophysiology 2021, 7: 1376-1386. PMID: 34217663, PMCID: PMC8605982, DOI: 10.1016/j.jacep.2021.04.004.Peer-Reviewed Original ResearchConceptsBody mass indexSevere mitral regurgitationHistory of arrhythmiaMitral regurgitationHypertrophic cardiomyopathyAtrial fibrillationLA volumeProspective natural history studyVolume indexHigher body mass indexAtrial volume indexLA volume indexPermanent atrial fibrillationOlder adult patientsStrong risk factorNatural history studiesCommon morbidityAdult patientsElectrical cardioversionYounger patientsCatheter ablationEndpoint eventsMass indexNational HeartRisk factors