Hsiang-Yu Lin1, Chih-Kuang Chuang2, Ming-Ren Chen3, Shan-Miao Lin3, Chung-Lieh Hung4, Chia-Ying Chang5, Pao Chin Chiu6, Wen-Hui Tsai7, Dau-Ming Niu8, Fuu-Jen Tsai9, Shio Jean Lin7, Wuh-Liang Hwu10, Ju-Li Lin11, Shuan-Pei Lin12. 1. 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. 2. 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. 3. 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. 4. 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. 5. Department of Pediatrics, Mackay Memorial Hospital, Hsinchu, Taiwan. 6. Department of Pediatrics, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan. 7. Department of Pediatrics, Chi Mei Medical Center, Tainan, Taiwan. 8. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 9. Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan. 10. Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. 11. Division of Genetics and Endocrinology, Department of Pediatrics, Chang Gung Memorial Hospital at Linkou and Chang Gung University College of Medicine, Taoyuan, Taiwan. 12. 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.
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.
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 MPSpatients (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: Carolyn M Wilhelm; Kristen V Truxal; Kim L McBride; John P Kovalchin; Kevin M Flanigan Journal: Mol Genet Metab Date: 2018-04-27 Impact factor: 4.797
Authors: C Lampe; B McNelly; A K Gevorkian; C J Hendriksz; T V Lobzhanidze; J Pérez-López; K M Stepien; N D Vashakmadze; M Del Toro Journal: Mol Genet Metab Rep Date: 2019-10-21
Authors: Raymond Y Wang; Kyle D Rudser; Donald R Dengel; Nicholas Evanoff; Julia Steinberger; Nina Movsesyan; Robert Garrett; Katherine Christensen; Deborah Boylan; Stephen R Braddock; Marwan Shinawi; Qi Gan; Adriana M Montaño Journal: Orphanet J Rare Dis Date: 2020-03-17 Impact factor: 4.123