The first cardiac transplant experience in a patient with mucopolysaccharidosis
Cardiovascular Pathology, 07/27/2012
Grinberg H et al. – 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.