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Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
Erlane Marques Ribeiro1, Ana Carolina Brusius-Facchin2, Sandra Leistner-Segal3
1Postgraduate Program in Health Science, Universidade Federal do Rio Grande do Norte, Caixa Postal 1524, Campus Universitário Lagoa Nova, 59078-970 Natal, RN, Brazil; Hospital Infantil Albert Sabin, Secretaria de Saúde do Estado do Ceará, Rua Tertuliano Sales, 544, 60410-790 Fortaleza, CE, Brazil.
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.
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