Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA

Orphanet Journal of Rare Diseases
Hsiang-Yu LinShuan-Pei Lin

Abstract

Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few studies have focused on the cardiac features of MPS IVA. We reviewed the medical records, echocardiograms, and electrocardiograms of 32 Taiwanese patients with MPS IVA (16 males and 16 females; median age, 10.8 years; age range, 1.1 to 29.1 years) as well as the echocardiographic data of six patients who received enzyme replacement therapy (ERT) for 3-6 years. Echocardiographic examinations (n = 32) revealed mean z scores of left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of 0.94, 2.70, 0.39, and 3.26, respectively. Z scores > 2 were identified in 25%, 50%, 29%, and 69% of the LVMI, IVSd, LVPWd, and aortic diameter values, respectively. Diastolic dysfunction [reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)] was identified in four patients (13%), however, the ejection fraction was normal (50-75%) in all of the patients. Sixteen patients (50%) had valvular heart di...Continue Reading

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Citations

Apr 29, 2020·International Journal of Molecular Sciences·Rossella Parini, Federica Deodato
Jun 15, 2019·Orphanet Journal of Rare Diseases·Hsiang-Yu LinShuan-Pei Lin
Sep 3, 2021·American Journal of Medical Genetics. Part a·Marta FrigeniHope Northrup
Oct 9, 2021·Molecular Genetics & Genomic Medicine·Hui ChenShunji Tomatsu

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Methods Mentioned

BETA
electrophoresis

Software Mentioned

SPSS

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