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Mol Genet Metab. 2011 Dec;104(4):695-9. doi: 10.1016/j.ymgme.2011.08.024. Epub 2011 Aug 27.

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.

Author information

1
Metabolic Diseases Clinic, The Children's Memorial Health Institute, Warsaw, Poland. ajurecka@gmail.com

Abstract

We present here the first literature description of a predominantly cardiac phenotype in a patient homozygous for missense mutation p.R152W in the N-acetylogalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. An adult Caucasian woman, who displayed very few symptoms up to her late thirties, was diagnosed with mucopolysaccharidosis type VI (MPS VI) after her hospitalization due to acute heart failure originating mainly from valve disease. In addition to her cardiac phenotype some musculoskeletal involvement without other MPS characteristic features were found. Despite the common pharmacologic treatment and implementation of enzyme replacement therapy with galsulfase the patient died at the age of 38 years because of decompensation of chronic heart failure.

PMID:
21917494
DOI:
10.1016/j.ymgme.2011.08.024
[Indexed for MEDLINE]

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