title: The first cardiac transplant experience in a patient with mucopolysaccharidosis.
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.
authors.affiliation: Instituto do Coração do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo-SP, Brazil.
authors.forename: Henrique
authors.initials: H
authors.lastname: Grinberg
authors.forename: Caio Robledo D'Angioli Costa
authors.initials: CR
authors.lastname: Quaio
authors.forename: Monica Samuel
authors.initials: MS
authors.lastname: Avila
authors.forename: Silvia Moreira Ayub
authors.initials: SM
authors.lastname: Ferreira
authors.forename: Marcelo Luiz Campos
authors.initials: ML
authors.lastname: Vieira
authors.forename: Luiz Alberto
authors.initials: LA
authors.lastname: Benvenuti
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Edimar Alcides
authors.initials: EA
authors.lastname: Bocchi
mesh_terms: D015150:Echocardiography, Doppler; D005192:Family Health; D017809:Fatal Outcome; D005260:Female; D005355:Fibrosis / Q000150:complications / Q000473:pathology; D006333:Heart Failure / Q000209:etiology / Q000601:surgery*; D016027:Heart Transplantation; D006801:Humans; D006984:Hypertrophy; D008247:Lysosomes / Q000473:pathology; D008297:Male; D016532:Mucopolysaccharidosis II / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D009154:Mutation; D032383:Myocytes, Cardiac / Q000473:pathology; D013429:Sulfatases; D015238:Sulfotransferases / Q000235:genetics; D055815:Young Adult
chemical_list: D015238:Sulfotransferases; C470792:SULF2 protein, human; D013429:Sulfatases