The first cardiac transplant experience in a patient with mucopolysaccharidosis

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.

Palavras-chave

Heart failure, Heart transplantation, Valve involvement, Mucopolysaccharidosis, Hurler syndrome

URI

https://observatorio.fm.usp.br/handle/OPI/673

Referências

Fesslova V, 2009, CARDIOL YOUNG, V19, P170, DOI 10.1017/S1047951109003576
Martin R, 2008, PEDIATRICS, V121, pE377, DOI 10.1542/peds.2007-1350
Okuyama T, 2010, MOL GENET METAB, V99, P18, DOI 10.1016/j.ymgme.2009.08.006

Coleções

Artigos e Materiais de Revistas Científicas - FM/MCP

Carregar mais

Página do item completo