Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.
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ABSTRACT:
SUBMITTER: Ribeiro EM
PROVIDER: S-EPMC5121363 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Publications
Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.
Ribeiro Erlane Marques EM Brusius-Facchin Ana Carolina AC Leistner-Segal Sandra S da Silva Carlos Antônio Bruno CA Schwartz Ida Vanessa IV
Molecular genetics and metabolism reports 20140929
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 <i>SGSH</i> 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. ...[more]
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