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

Erlane Marques Ribeiro; Ana Carolina Brusius-Facchin; Sandra Leistner-Segal; Carlos Antônio Bruno da Silva; Ida Vanessa Schwartz

doi:10.1016/j.ymgmr.2014.09.003

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

Mol Genet Metab Rep. 2014 Sep 29:1:422-424. doi: 10.1016/j.ymgmr.2014.09.003. eCollection 2014.

Authors

Erlane Marques Ribeiro¹, Ana Carolina Brusius-Facchin², Sandra Leistner-Segal³, Carlos Antônio Bruno da Silva⁴, Ida Vanessa Schwartz⁵

Affiliations

¹ 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.
² Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2350, 90035-903 Porto Alegre, RS, Brazil.
³ 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.
⁴ Postgraduate Program in Health Science, Universidade Federal do Rio Grande do Norte, Caixa Postal 1524, Campus Universitário Lagoa Nova, 59078-970 Natal, RN, Brazil.
⁵ 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.

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.

Keywords: Cardiac disease; Cardiomyopathy; MPS III; Mucopolysaccharidosis; SGSH gene; Sanfilippo syndrome.

Publication types

Case Reports