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-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 classSymptom 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
Effect 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 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 counselingImpact 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 burdenMavacamten Favorably Impacts Cardiac Structure in Obstructive Hypertrophic Cardiomyopathy
Saberi S, Cardim N, Yamani M, Schulz-Menger J, Li W, Florea V, Sehnert AJ, Kwong RY, Jerosch-Herold M, Masri A, Owens A, Lakdawala NK, Kramer CM, Sherrid M, Seidler T, Wang A, Sedaghat-Hamedani F, Meder B, Havakuk O, Jacoby D. Mavacamten Favorably Impacts Cardiac Structure in Obstructive Hypertrophic Cardiomyopathy. Circulation 2020, 143: 606-608. PMID: 33190524, DOI: 10.1161/circulationaha.120.052359.Peer-Reviewed Original ResearchImpact of Preoperative Lymphopenia on Survival Following Left Ventricular Assist Device Placement
Stawiarski K, Agboola O, Park J, Geirsson A, Jacoby D, Bellumkonda L, Ahmad T, Chou J, Lee F, Mangi A, Bonde P. Impact of Preoperative Lymphopenia on Survival Following Left Ventricular Assist Device Placement. ASAIO Journal 2020, 67: 650-657. PMID: 33074860, DOI: 10.1097/mat.0000000000001289.Peer-Reviewed Original ResearchConceptsAbsolute lymphocyte countCause mortalityLymphopenia groupLeft ventricular assist device patientsVentricular assist device patientsVentricular assist device placementCox proportional hazards modelImpact of lymphopeniaHeart failure populationKaplan-Meier plotsFurther clinical investigationProportional hazards modelLog-rank statisticsDurable LVADPreoperative lymphopeniaLVAD placementLymphocyte countLymphopenic patientsDevice patientsSingle centerPoor outcomePrognostic implicationsALC levelsFailure populationStudy populationDay-to-day Relationships between Physical Activity and Sleep Characteristics among People with Heart Failure and Insomnia
Ash G, Jeon S, Conley S, Knies AK, Yaggi HK, Jacoby D, Hollenbeak CS, Linsky S, O’Connell M, Redeker NS. Day-to-day Relationships between Physical Activity and Sleep Characteristics among People with Heart Failure and Insomnia. Behavioral Sleep Medicine 2020, 19: 602-614. PMID: 33048589, PMCID: PMC8496686, DOI: 10.1080/15402002.2020.1824918.Peer-Reviewed Original ResearchConceptsNext-day physical activityHeart failureTotal sleep timePhysical activityCounts/minuteSleep characteristicsSleep timeSleep variablesNYHA class IIAdvanced heart failureStable heart failureDaytime physical activityBody mass indexCommunity-dwelling adultsWrist actigraphy recordingsCognitive behavioral therapyNYHA classHF classMass indexSleep improvementActigraphy recordingsLong sleepBehavioral therapyClass IIInsomniaTemporal 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 volumeSurvival Following Implantable Cardioverter‐Defibrillator Implantation in Patients With Amyloid Cardiomyopathy
Higgins AY, Annapureddy AR, Wang Y, Minges KE, Lampert R, Rosenfeld LE, Jacoby DL, Curtis JP, Miller EJ, Freeman JV. Survival Following Implantable Cardioverter‐Defibrillator Implantation in Patients With Amyloid Cardiomyopathy. Journal Of The American Heart Association 2020, 9: e016038. PMID: 32867553, PMCID: PMC7726970, DOI: 10.1161/jaha.120.016038.Peer-Reviewed Original ResearchConceptsImplantable cardioverter defibrillator implantationCardioverter-defibrillator implantationNonischemic cardiomyopathyCardiac amyloidosisDiabetes mellitusCerebrovascular diseaseVentricular tachycardiaMultivariable Cox proportional hazards regression modelsCox proportional hazards regression modelProportional hazards regression modelsKaplan-Meier survival curvesCox proportional hazards modelPropensity-matched cohortOutcomes of patientsHazards regression modelsProportional hazards modelCause mortalityICD implantationRenal functionMultivariable analysisConclusions MortalityRisk factorsRegistry dataAmyloid cardiomyopathyHigh riskMavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial
Olivotto I, Oreziak A, Barriales-Villa R, Abraham TP, Masri A, Garcia-Pavia P, Saberi S, Lakdawala NK, Wheeler MT, Owens A, Kubanek M, Wojakowski W, Jensen MK, Gimeno-Blanes J, Afshar K, Myers J, Hegde SM, Solomon SD, Sehnert AJ, Zhang D, Li W, Bhattacharya M, Edelberg JM, Waldman CB, Lester SJ, Wang A, Ho CY, Jacoby D, investigators E, Bartunek J, Bondue A, Van Craenenbroeck E, Kubanek M, Zemanek D, Jensen M, Mogensen J, Thune J, Charron P, Hagege A, Lairez O, Trochu J, Axthelm C, Duengen H, Frey N, Mitrovic V, Preusch M, Schulz-Menger J, Seidler T, Arad M, Halabi M, Katz A, Monakier D, Paz O, Viskin S, Zwas D, Olivotto I, Rocca H, Michels M, Dudek D, Oko-Sarnowska Z, Oreziak A, Wojakowski W, Cardim N, Pereira H, Barriales-Villa R, Pavia P, Blanes J, Urbano R, Diaz L, Elliott P, Yousef Z, Abraham T, Afshar K, Alvarez P, Bach R, Becker R, Choudhury L, Fermin D, Jacoby D, Jefferies J, Kramer C, Lakdawala N, Lester S, Marian A, Masri A, Maurer M, Nagueh S, Owens A, Owens D, Rader F, Saberi S, Sherrid M, Shirani J, Symanski J, Turer A, Wang A, Wever-Pinzon O, Wheeler M, Wong T, Yamani M. Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): a randomised, double-blind, placebo-controlled, phase 3 trial. The Lancet 2020, 396: 759-769. PMID: 32871100, DOI: 10.1016/s0140-6736(20)31792-x.Peer-Reviewed Original ResearchConceptsObstructive hypertrophic cardiomyopathyKansas City Cardiomyopathy Questionnaire clinical summary scoreSymptomatic obstructive hypertrophic cardiomyopathyHypertrophic cardiomyopathyLVOT gradientNYHA classPrimary endpointDynamic left ventricular outflow tract obstructionNew York Heart Association class IILeft ventricular outflow tract obstructionTreatment-emergent adverse eventsVentricular outflow tract obstructionAvailable pharmacological optionsKey pathophysiological abnormalityNYHA class reductionNYHA functional classOutflow tract obstructionPlacebo-controlled trialPhase 3 trialML/Disease-specific treatmentPeak oxygen consumptionGreater increaseLVOT obstructionPlacebo groupSpatial 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 myocytes