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Elsevier, Molecular Genetics and Metabolism Reports, (1), p. 422-424, 2014

DOI: 10.1016/j.ymgmr.2014.09.003

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Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report

Journal article published in 2014 by Erlane Marques Ribeiro, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Ida Vanessa Schwartz ORCID, Carlos Antonio Bruno Silva
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Severe cardiac involvement is a common feature of mucopolysaccharidoses (MPS), but occurs only rarely in MPS III (Sanfilippo syndrome). We report herein a case of MPS III-A having cardiac involvement as its first manifestation. Analysis of the SGSH gene showed homozygosity for the novel mutation p.G80V. We propose that MPS disorders, including MPS III-A, should be included in the differential diagnosis of every case of cardiomyopathy presenting during the first year of life.