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
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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