Brief Communication Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype Agnieszka Jurecka a, b, ⁎, Adam Golda c , Violetta Opoka-Winiarska d , Ewa Piotrowska b , Anna Tylki-Szymańska a, ⁎ a Metabolic Diseases Clinic, The Children's Memorial Health Institute, Warsaw, Poland b Department of Molecular Biology, University of Gdańsk, Gdańsk, Poland c Department of Cardiology, Congenital Heart Diseases and Electrotherapy, Silesian Center for Heart Diseases, Zabrze, Poland d Department of Paediatric Pulmonology and Rheumatology, Medical University of Lublin, Lublin, Poland abstract article info Article history: Received 23 July 2011 Received in revised form 23 August 2011 Accepted 23 August 2011 Available online 27 August 2011 Keywords: Acute heart failure Chronic heart failure Cardiac valve disease Mitral insufficiency Pulmonary hypertension Enzyme replacement therapy We present here the first literature description of a predominantly cardiac phenotype in a patient homozy- gous 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 implemen- tation of enzyme replacement therapy with galsulfase the patient died at the age of 38 years because of de- compensation of chronic heart failure. © 2011 Elsevier Inc. All rights reserved. 1. Introduction Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syn- drome, MIM# 25320) is an autosomal recessive lysosomal storage dis- order caused by mutations in the N-acetylogalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene located on the long arm of chromosome 5 (5q13-5q140) [1]. MPS VI is characterized by a deficiency of arylsulfa- tase B (ARSB) leading to incomplete degradation and cellular accumula- tion of the glycosaminoglycan (GAG) dermatan sulfate in the lysosomes of most cells. Typically, most clinically apparent manifestations of MPS VI are abnormalities in the skeletal system called dysotosis multiplex. Also ear, nose, throat, ophthalmological, respiratory-, nervous- and car- diovascular system defects were described [2,3]. The rate of clinical pro- gression in MPS VI patients varies considerably, generating a wide continuous clinical spectrum from severe to relatively attenuated [4,5]. However, most MPS VI patients develop symptoms in childhood and there are only a few detailed reports describing patients with a very attenuated form of MPS VI [3,6–8]. Except for the patient described by Brooks et al. representing the attenuated end of the MPS VI clinical spectrum with no obvious symptoms at the age of 44 years, other patients developed first symptoms earlier in life. In our article we pre- sent the first description of a predominantly cardiac MPS VI phenotype. Our patient, a 38-year-old woman of Caucasian race, was homozygous for a p.R152W mutation. Up to her late thirties she showed only very few symptoms with musculoskeletal involvement and had no other fea- tures characteristic for MPS VI. 2. Case history The patient is a 38-year-old Caucasian woman of Polish origin. She was the first child of healthy unrelated parents originating from neigh- boring villages (currently Lithuania, previously Poland). The neonatal period and subsequent childhood were uneventful; nonetheless her birth weight and length reached values over 97th percentile (5200 g and 60 cm respectively). Her medical records recorded a slightly decreased physical endur- ance since the age of 15 years and progressively decreasing shoulder joint range of motion (ROM), followed by slight recurrent bone pain and progressive stiffness since the age of 21. She gave birth aged 21 to a healthy daughter who was born through caesarean section. Firstly, limitations of movement occurred in the shoulder joints (mean active shoulder flexion was 105 and mean active shoulder ab- duction was 55) and were then followed by smaller joints of the upper limbs (elbows and wrists), lower limbs (knees, ankles and hips) Molecular Genetics and Metabolism 104 (2011) 695–699 ⁎ Corresponding authors at: Metabolic Diseases Clinic, The Children's Memorial Health Institute, Al. Dzieci Polskich 20, 04–730 Warsaw, Poland. Fax: + 48 228157489. E-mail addresses: ajurecka@gmail.com (A. Jurecka), atylki@czd.pl (A. Tylki-Szymańska). 1096-7192/$ – see front matter © 2011 Elsevier Inc. All rights reserved. doi:10.1016/j.ymgme.2011.08.024 Contents lists available at SciVerse ScienceDirect Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme