Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI

Molecular Genetics and Metabolism
Hsiang-Yu LinShuan-Pei Lin

Abstract

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 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. 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.

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Citations

Apr 26, 2019·Journal of Inherited Metabolic Disease·Gé-Ann KuiperAnnet M Bosch
Dec 14, 2019·Pediatric Cardiology·Daniel Almeida do ValleRosana Herminia Scola
Mar 19, 2020·Orphanet Journal of Rare Diseases·Raymond Y WangAdriana M Montaño
Apr 29, 2020·International Journal of Molecular Sciences·Rossella Parini, Federica Deodato
Aug 31, 2018·Orphanet Journal of Rare Diseases·Hsiang-Yu LinShuan-Pei Lin
Jun 15, 2019·Orphanet Journal of Rare Diseases·Hsiang-Yu LinShuan-Pei Lin
Mar 24, 2020·Intractable & Rare Diseases Research·Jing ZhouLing Wang
Nov 7, 2019·Molecular Genetics and Metabolism Reports·C LampeM Del Toro

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