Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI
Journal
Molecular Genetics and Metabolism
Journal Volume
117
Journal Issue
4
Pages
431-437
Date Issued
2016
Author(s)
Lin, Hsiang-Yu
Chuang, Chih-Kuang
Chen, Ming-Ren
Lin, Shan-Miao
Hung, Chung-Lieh
Chang, Chia-Ying
Chiu, Pao Chin
Tsai, Wen-Hui
Niu, Dau-Ming
Tsai, Fuu-Jen
Lin, Shio Jean
Lin, Ju-Li
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 1–10.8?years 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 12?years of age, z scores for both LVMI and IVSd decreased significantly (p?
SDGs
Other Subjects
elosulfase alfa; galsulfase; iduronate 2 sulfatase; laronidase; adolescent; adult; aorta stenosis; aorta valve regurgitation; Article; bi atrial enlargement; cardiac structure; cardiomegaly; cardiovascular parameters; child; clinical article; diastolic dysfunction; ECG abnormality; enzyme replacement; female; first degree atrioventricular block; heart; heart atrium enlargement; heart murmur; heart right ventricle hypertrophy; heart ventricle extrasystole; heart ventricle hypertrophy; human; infant; interventricular septum thickness in diastole; left ventricular mass index; male; Maroteaux Lamy syndrome; mitral valve prolapse; mitral valve regurgitation; mitral valve stenosis; mucopolysaccharide i; mucopolysaccharide i; mucopolysaccharide ii; mucopolysaccharide ii; mucopolysaccharide iva; mucopolysaccharide iva; mucopolysaccharidosis; priority journal; retrospective study; Taiwanese; valvular heart disease; cardiac muscle; complication; echocardiography; electrocardiography; follow up; heart; Heart Diseases; Mucopolysaccharidoses; pathology; pathophysiology; preschool child; treatment outcome; young adult; Adolescent; Adult; Child; Child, Preschool; Echocardiography; Electrocardiography; Enzyme Replacement Therapy; Female; Follow-Up Studies; Heart; Heart Diseases; Humans; Infant; Male; Mucopolysaccharidoses; Myocardium; Retrospective Studies; Treatment Outcome; Young Adult
Publisher
Academic Press Inc.
Type
journal article