RESUMO
INTRODUCTION: We have previously reported that genetically positive patients have a more profound early decrease in provocable left ventricular outflow tract gradient compared to genetically negative patients utilizing mavacamten in the first 12 weeks of therapy. METHODS AND RESULTS: In this current analysis, we found that genetically positive patients have less favorable remodeling as measured by left ventricular wall thickness regression when evaluated long-term as compared to genetically negative patients, despite an overall better early response to mavacamten. The majority of genetically positive patients were maintained on only 2.5 mg of mavacamten due to early robust response. CONCLUSION: We hypothesize that this lower dosing attenuated the long-term benefit of mavacamten in genetically positive patients. We believe that the long-term benefit of mavacamten on positive cardiac remodeling is dose-dependent and not solely related to the magnitude of left ventricular outflow gradient decrease.
Assuntos
Remodelação Ventricular , Humanos , Remodelação Ventricular/efeitos dos fármacos , Remodelação Ventricular/genética , Masculino , Feminino , Seguimentos , Pessoa de Meia-Idade , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/efeitos dos fármacos , Relação Dose-Resposta a Droga , Resultado do Tratamento , Fatores de Tempo , Benzilaminas , Uracila/análogos & derivadosAssuntos
Nitrito de Amila , Benzilaminas , Cardiomiopatia Hipertrófica , Uracila , Obstrução da Via de Saída Ventricular Esquerda , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Nitrito de Amila/efeitos adversos , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/fisiopatologia , Teste de Esforço , Resultado do Tratamento , Uracila/análogos & derivadosRESUMO
Objective: To assess risks and benefits of cardiac intervention in adults with Down syndrome (DS). Patients and Methods: A retrospective review was conducted using data from a study we published in 2010. Patients aged 18 years or older with DS who underwent cardiac operation or percutaneous intervention from February 2009 through April 2022 (new cohort) were compared with patients in the previous study (January 1969 through November 2007; remote cohort) at Mayo Clinic. Results: In total, 81 adults (43 men; 38 women) with DS underwent 89 cardiac interventions (84 surgical; 5 percutaneous) at a mean age of 33 years. Twenty-six patients presented with complete atrioventricular canal defect (17%) or tetralogy of Fallot (15%). The most common adult procedures were valve interventions: mitral (31%), tricuspid (15%), and pulmonary (12%). Of pulmonary valve interventions in the new cohort, 33% were performed percutaneously. The postoperative mortality rate was low (1% total). The mean time between last operation and death was 16 years. Conclusion: Adults with DS can undergo cardiac operation and percutaneous intervention with low morbidity and mortality risk and good long-term survival.