HENRIQUE GRINBERG
Índice h a partir de 2011
1
Projetos de Pesquisa
Unidades Organizacionais
Instituto do Coração, Hospital das Clínicas, Faculdade de Medicina
HU, Hospital Universitário
HU, Hospital Universitário
1 resultados
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- The first cardiac transplant experience in a patient with mucopolysaccharidosis(2012) GRINBERG, Henrique; QUAIO, Caio Robledo D'Angioli Costa; AVILA, Monica Samuel; FERREIRA, Silvia Moreira Ayub; VIEIRA, Marcelo Luiz Campos; BENVENUTI, Luiz Alberto; KIM, Chong Ae; BOCCHI, Edimar AlcidesHunter syndrome (MPSII) is a rare X-linked lysosomal storage disorder that can affect multiple systems but primarily affects the heart. We report the case of a previously asymptomatic 23-year-old patient who had an attenuated form of MPSII and presented with refractory heart failure that required a heart transplant. The diagnosis was confirmed by detection of an increase in urinary excretion of glycosaminoglycans, a deficiency in enzymatic activity, and molecular analysis. A myocardial biopsy revealed hypertrophic cardiomyocytes, mild fibrosis, and lysosomal storage in interstitial cells. Molecular analysis identified a novel mutation in the iduronate-2-sulfatase gene. Although the clinical outcome was not favorable, we believe that this approach may be valid in end-stage heart failure.