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• W2094306543 abstract "Although left ventricular hypertrophy (LVH) in Fabry disease (FD) can improve with enzyme-replacement therapy (ERT), the response is difficult to predict. Furthermore, the response of other cardiac features such as aortic dilatation and ECG changes are poorly understood. A local registry of 66 patients with FD was studied. ECG, echocardiogram and Fabry Outcome Survey–Mainz Severity Score Index (FOS-MSSI) data were compared between baseline and after long-term ERT (median 36 months). In patients with LVH (n = 42), left ventricular mass index (LVMI), maximal wall thickness (MWT), left ventricular end-diastolic diameter (LVEDD) and ejection fraction (EF) were all seen to improve after ERT (LVMI: 135 ± 13 vs. 133 ± 13 g/m2, MWT: 17 ± 6 vs. 16 ± 5 mm, LVEDD: 55 ± 6 vs. 54 ± 6 mm; EF: 62 ± 5 vs. 64 ± 3%; p < 0.05). In the entire patient group, PQ interval and P wave duration significantly increased with ERT (PQ: 131 ± 13 vs. 144 ± 13 ms, P: 76 ± 5 vs. 90 ± 6 ms; p values < 0.001); QTc interval significantly decreased (418 ± 18 vs. 410 ± 15 ms; p < 0.001); and median FOS-MSSI score fell from 16 to 14 (p < 0.001). On logistic-regression analysis, none of the recorded baseline features (age, gender, LVMI, MWT, LVEDD, aortic diameter, EF, PQ interval, P wave duration, QRS duration, QT interval, Romhilt–Estes score or FOS-MSSI) predicted improvements in LVH or FOS-MSSI with ERT (p > 0.05). ERT improved LV morphology and function in patients with LVH — but there was no relationship between age, gender, FOS-MSSI or baseline ECG/TTE features and the response. ERT also normalised long QTc intervals, short PQ intervals and short P waves; and reduced disease burden (FOS-MSSI)." @default.
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• W2094306543 date "2012-09-01" @default.
• W2094306543 modified "2023-09-26" @default.
• W2094306543 title "Enzyme replacement therapy improves cardiac features and severity of Fabry disease" @default.
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• W2094306543 doi "https://doi.org/10.1016/j.ymgme.2012.05.011" @default.
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