title: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.
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.
authors.affiliation: Metabolic Diseases Clinic, The Children's Memorial Health Institute, Warsaw, Poland. ajurecka@gmail.com
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Jurecka
authors.forename: Adam
authors.initials: A
authors.lastname: Golda
authors.forename: Violetta
authors.initials: V
authors.lastname: Opoka-Winiarska
authors.forename: Ewa
authors.initials: E
authors.lastname: Piotrowska
authors.forename: Anna
authors.initials: A
authors.lastname: Tylki-Szymańska
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006025:Glycosaminoglycans / Q000652:urine; D006333:Heart Failure / Q000000981:diagnostic imaging* / Q000209:etiology / Q000235:genetics; D006801:Humans; D008161:Lumbosacral Region / Q000000981:diagnostic imaging; D009087:Mucopolysaccharidosis VI / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010388:Pelvis / Q000000981:diagnostic imaging; D010641:Phenotype; D011859:Radiography; D014463:Ultrasonography
chemical_list: D006025:Glycosaminoglycans