Publications (1)1.63 Total impact
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Article: The first cardiac transplant experience in a patient with mucopolysaccharidosis.
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ABSTRACT: Hunter 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.Cardiovascular pathology: the official journal of the Society for Cardiovascular Pathology 12/2011; 21(4):358-60. · 1.63 Impact Factor
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2011
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Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
São Paulo, Estado de Sao Paulo, Brazil
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