Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
Autor: | Pao Chin Chiu, Shuan-Pei Lin, Dau Ming Niu, Ming-Ren Chen, Wen Hui Tsai, Shan Miao Lin, Fuu Jen Tsai, Ju Li Lin, Chih Kuang Chuang, Shio Jean Lin, Wuh-Liang Hwu, Chia-Ying Chang, Chung-Lieh Hung, Hsiang-Yu Lin |
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Rok vydání: | 2016 |
Předmět: |
Adult
Male 0301 basic medicine congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Heart Diseases Endocrinology Diabetes and Metabolism Mucopolysaccharidosis Diastole 030105 genetics & heredity Biochemistry Left ventricular mass Electrocardiography Young Adult 03 medical and health sciences Endocrinology Internal medicine Genetics medicine Humans Enzyme Replacement Therapy Cardiac structure Interventricular septum Child Molecular Biology Retrospective Studies medicine.diagnostic_test business.industry Myocardium valvular heart disease Infant nutritional and metabolic diseases Heart Enzyme replacement therapy Mucopolysaccharidoses medicine.disease Treatment Outcome medicine.anatomical_structure Echocardiography Child Preschool Cardiology Female business Follow-Up Studies |
Zdroj: | Molecular Genetics and Metabolism. 117:431-437 |
ISSN: | 1096-7192 |
Popis: | 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.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.At start of ERT, z scores2 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 (p0.01) after ERT. However, the condition of valve regurgitation or stenosis did not show improvement despite ERT.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. |
Databáze: | OpenAIRE |
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