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

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

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.G...

Full description

Bibliographic Details
Main Authors: Erlane Marques Ribeiro, Ana Carolina Brusius-Facchin, Sandra Leistner-Segal, Carlos Antônio Bruno da Silva, Ida Vanessa Schwartz
Format: Article
Language:English
Published: Elsevier 2014-01-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Mucopolysaccharidosis
Sanfilippo syndrome
Cardiomyopathy
Cardiac disease
MPS III
SGSH gene
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426914000615

Internet

http://www.sciencedirect.com/science/article/pii/S2214426914000615

Similar Items