title: Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI.
abstract: BACKGROUND
  While enzyme replacement therapy (ERT) has been shown to improve endurance and joint mobility for patients with mucopolysaccharidoses (MPS) I, II, IVA and VI, the impact of ERT on cardiac abnormalities remains uncertain.
  
  
  METHODS
  Medical records and echocardiograms of 28 Taiwanese MPS patients (9 with MPS I, 7 with MPS II, 7 with MPS IVA, and 5 with MPS VI) treated with ERT for 1-10.8years were retrospectively reviewed.
  
  
  RESULTS
  At start of ERT, z scores>2 were identified in 46% and 75% for left ventricular mass index (LVMI) and interventricular septum thickness in diastole (IVSd) in these patients, respectively. Twenty-four patients (86%) had valvular heart disease. After ERT, the mean IVSd z score of all patients decreased significantly from 3.87 to 2.57 (p=0.016). For 11 patients starting ERT before 12years of age, z scores for both LVMI and IVSd decreased significantly (p<0.01) after ERT. However, the condition of valve regurgitation or stenosis did not show improvement despite ERT.
  
  
  CONCLUSIONS
  ERT was shown to be an effective therapy for reducing cardiac hypertrophy, with best results seen when ERT was started at an early age. ERT, however, had little impact on valvular heart disease.
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan.
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.affiliation: Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Medical College, Fu-Jen Catholic University, Taipei, Taiwan; Institute of Biotechnology, National Taipei University of Technology, Taipei, Taiwan.
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
authors.forename: Ming-Ren
authors.initials: MR
authors.lastname: Chen
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Mackay Junior College of Medicine, Nursing and Management, Taipei, Taiwan.
authors.forename: Shan-Miao
authors.initials: SM
authors.lastname: Lin
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Division of Cardiology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan.
authors.forename: Chung-Lieh
authors.initials: CL
authors.lastname: Hung
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital, Hsinchu, Taiwan.
authors.forename: Chia-Ying
authors.initials: CY
authors.lastname: Chang
authors.affiliation: Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan.
authors.forename: Pao Chin
authors.initials: PC
authors.lastname: Chiu
authors.affiliation: Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
authors.forename: Wen-Hui
authors.initials: WH
authors.lastname: Tsai
authors.affiliation: Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
authors.forename: Dau-Ming
authors.initials: DM
authors.lastname: Niu
authors.affiliation: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
authors.affiliation: Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan.
authors.forename: Shio Jean
authors.initials: SJ
authors.lastname: Lin
authors.affiliation: Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
authors.forename: Wuh-Liang
authors.initials: WL
authors.lastname: Hwu
authors.affiliation: Division of Genetics and Endocrinology, Department of Pediatrics, Chang Gung Memorial Hospital at Linkou and Chang Gung University College of Medicine, Taoyuan, Taiwan.
authors.forename: Ju-Li
authors.initials: JL
authors.lastname: Lin
authors.affiliation: Department of Medicine, Mackay Medical College, New Taipei City, Taiwan; Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, Mackay Memorial Hospital, Taipei, Taiwan; Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. Electronic address: 4535lin@gmail.com.
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D004562:Electrocardiography; D056947:Enzyme Replacement Therapy; D005260:Female; D005500:Follow-Up Studies; D006321:Heart / Q000503:physiopathology*; D006331:Heart Diseases / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D009083:Mucopolysaccharidoses / Q000150:complications* / Q000175:diagnosis / Q000628:therapy*; D009206:Myocardium / Q000473:pathology*; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
keywords: Cardiac; Echocardiography; Electrocardiography; Enzyme replacement therapy; Mucopolysaccharidosis