title: Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report.
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 theSGSHgene 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.
authors.affiliation: Postgraduate 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.
authors.forename: Erlane Marques
authors.initials: EM
authors.lastname: Ribeiro
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil.
authors.forename: Ana Carolina
authors.initials: AC
authors.lastname: Brusius-Facchin
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil; Postgraduate Program in Medicine: Medical Sciences, Universidade Federal do Rio Grande do Sul, Av. Paulo Gama, 110. Bairro Farroupilha, 90040-060 Porto Alegre, RS, Brazil.
authors.forename: Sandra
authors.initials: S
authors.lastname: Leistner-Segal
authors.affiliation: Postgraduate Program in Health Science, Universidade Federal do Rio Grande do Norte, Caixa Postal 1524, Campus Universitário Lagoa Nova, 59078-970 Natal, RN, Brazil.
authors.forename: Carlos Antônio Bruno
authors.initials: CA
authors.lastname: da Silva
authors.affiliation: Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil; Department of Genetics, Universidade Federal do Rio Grande do Sul, Av. Paulo Gama, 110. Bairro Farroupilha, 90040-060 Porto Alegre, RS, Brazil.
authors.forename: Ida Vanessa
authors.initials: IV
authors.lastname: Schwartz
keywords: Cardiac disease; Cardiomyopathy; MPS III; Mucopolysaccharidosis; SGSH gene; Sanfilippo syndrome