Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy.
Meisner J, Renberg A, Smith E, Tsan Y, Elder B, Bullard A, Merritt O, Zheng S, Lakdawala N, Owens A, Ryan T, Miller E, Rossano J, Lin K, Claggett B, Ashley E, Michels M, Lampert R, Stendahl J, Abrahams D, Semsarian C, Parikh V, Wheeler M, Ingles J, Day S, Saberi S, Russell M, Previs M, Ho C, Ware J, Helms A. Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy. Circulation 2024 PMID: 39633578, DOI: 10.1161/circulationaha.124.069398.Peer-Reviewed Original ResearchPathogenic sarcomeric variantsOvert hypertrophic cardiomyopathySarcomere variantsHypertrophic cardiomyopathyGeneral populationSarcomeric genesCardiac magnetic resonance imaging analysisSarcomeric Human Cardiomyopathy RegistryInduced pluripotent stem cell-derived cardiomyocytesPluripotent stem cell-derived cardiomyocytesStem cell-derived cardiomyocytesAssociated with disease severityDisease severityCardiac magnetic resonance imaging dataCell-derived cardiomyocytesMagnetic resonance imaging analysisMild hypertrophic cardiomyopathyIncreased disease severityCardiomyopathy RegistryDisease riskClinical outcomesAdverse eventsSignificant additive effectsEffect sizePolygenic contributionLong‐Term Safety and Efficacy of Mavacamten in Symptomatic Obstructive Hypertrophic Cardiomyopathy: Interim Results of the PIONEER‐OLE Study
Masri A, Lester S, Stendahl J, Hegde S, Sehnert A, Balaratnam G, Shah A, Fox S, Wang A. Long‐Term Safety and Efficacy of Mavacamten in Symptomatic Obstructive Hypertrophic Cardiomyopathy: Interim Results of the PIONEER‐OLE Study. Journal Of The American Heart Association 2024, 13: e030607. PMID: 38591260, PMCID: PMC11262496, DOI: 10.1161/jaha.123.030607.Peer-Reviewed Original ResearchConceptsObstructive hypertrophic cardiomyopathyKansas City Cardiomyopathy Questionnaire–Overall Summary scoreSymptomatic obstructive hypertrophic cardiomyopathyOutflow tract gradientHypertrophic cardiomyopathyNew York Heart Association class improvementLeft ventricular outflow tract gradientTreatment-emergent adverse eventsSerum NT-proBNP levelsLeft ventricular ejection fractionEffect of mavacamtenIndividual dose titrationNT-proBNP levelsVentricular ejection fractionSerum NT-proBNPSummary scoreLong-term safetyLonger-term treatmentDose titrationEjection fractionNT-proBNPB-blockersReduced doseAdverse eventsInterim results