文章基本信息

标题：Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report
作者：Erlane Marques Ribeiro ; Ana Carolina Brusius-Facchin ; Sandra Leistner-Segal 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2014
卷号：1
页码：422-424
DOI：10.1016/j.ymgmr.2014.09.003
出版社：Elsevier B.V.
摘要：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.
关键词：Mucopolysaccharidosis; Sanfilippo syndrome; Cardiomyopathy; Cardiac disease; MPS III; SGSH gene