2020
Spatial 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 myocytesDesmoplakin 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 mutationsZinc Deficiency as a Reversible Cause of Heart Failure.
Rosenblum H, Bikdeli B, Wessler J, Gupta A, Jacoby DL. Zinc Deficiency as a Reversible Cause of Heart Failure. Texas Heart Institute Journal 2020, 47: 152-154. PMID: 32603465, PMCID: PMC7328074, DOI: 10.14503/thij-17-6586.Peer-Reviewed Case Reports and Technical NotesConceptsHeart failureZinc supplementationDepressed left ventricular systolic functionNew-onset heart failureLeft ventricular systolic functionZinc levelsLow plasma zinc levelsZinc deficiencyVentricular systolic functionPlasma zinc levelsCross-sectional studyCardiomyocyte oxidative stressOngoing pathogenesisReversible causesSystolic functionLower plasmaMyocardial structureNutritional deficienciesAnorexia nervosaOxidative stressPatientsSupplementationChief causeDeficiencyFailureAppropriate and inappropriate shocks in hypertrophic cardiomyopathy patients with subcutaneous implantable cardioverter-defibrillators: An international multicenter study
Nazer B, Dale Z, Carrassa G, Reza N, Ustunkaya T, Papoutsidakis N, Gray A, Howell SJ, Elman MR, Pieragnoli P, Ricciardi G, Jacoby D, Frankel DS, Owens A, Olivotto I, Heitner SB. Appropriate and inappropriate shocks in hypertrophic cardiomyopathy patients with subcutaneous implantable cardioverter-defibrillators: An international multicenter study. Heart Rhythm 2020, 17: 1107-1114. PMID: 32084597, PMCID: PMC8052990, DOI: 10.1016/j.hrthm.2020.02.008.Peer-Reviewed Original ResearchConceptsSecondary prevention patientsAdjusted odds ratioT-wave inversionAppropriate shocksInappropriate shocksHCM patientsR-wave amplitudeHypertrophic cardiomyopathyS-ICDsCardiology/American Heart Association criteriaElectrocardiographic R-wave amplitudeAmerican Heart Association criteriaHCM Risk-SCD scorePrimary prevention patientsS-ICD shocksAbnormal T-wave inversionSustained ventricular arrhythmiasSudden cardiac deathS-ICD implantationHypertrophic cardiomyopathy patientsInternational multicenter studyT-wave oversensingYounger patientsCardiac deathIndependent predictors
2019
Mulibrey Nanism Syndrome: A Case for Heart Transplantation
Anwer M, Bin Mahmood SU, Stawiarski K, Elder R, Ali A, Jacoby D. Mulibrey Nanism Syndrome: A Case for Heart Transplantation. The Annals Of Thoracic Surgery 2019, 109: e115-e117. PMID: 31260650, DOI: 10.1016/j.athoracsur.2019.05.021.Peer-Reviewed Case Reports and Technical NotesMavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial.
Heitner SB, Jacoby D, Lester SJ, Owens A, Wang A, Zhang D, Lambing J, Lee J, Semigran M, Sehnert AJ. Mavacamten Treatment for Obstructive Hypertrophic Cardiomyopathy: A Clinical Trial. Annals Of Internal Medicine 2019, 170: 741-748. PMID: 31035291, DOI: 10.7326/m18-3016.Peer-Reviewed Original ResearchMeSH KeywordsAdministration, OralAdrenergic beta-AntagonistsAdultAgedBenzylaminesCardiomyopathy, HypertrophicCardiovascular AgentsDose-Response Relationship, DrugDrug Therapy, CombinationExercise ToleranceFemaleHumansMaleMiddle AgedOxygen ConsumptionProspective StudiesStroke VolumeUracilVentricular Function, LeftYoung AdultConceptsObstructive hypertrophic cardiomyopathyLVOT gradientDyspnea scoreAdverse eventsCohort BPeak VO2Hypertrophic cardiomyopathyLeft ventricular outflow tract gradientVentricular outflow tract gradientEnd pointCommon adverse eventsOutflow tract gradientUnrelated adverse eventsOpen-label designPrimary end pointSecondary end pointsPhase 2 trialVentricular ejection fractionML/Peak oxygen consumptionEffect of mavacamtenHigher plasma concentrationsMavacamten treatmentLVOT obstructionTract gradient