070 Enzyme replacement therapy improves cardiac features of Fabry disease. (16th May 2012)

• Record Type: Journal Article
• Authors: Motwani, M; Banypersad, S; Woolfson, P; Waldek, S
• Is Part Of: Heart. Volume 98(2012)Supplement 1
• Page Start: A40
• Page End: A40
• Publication Date: 2012-05-16
• Subjects: Fabry disease -- LVH -- enzyme replacement therapy; Heart -- Diseases -- Treatment -- Periodicals; Cardiology -- Periodicals; 616.12
• DOI: 10.1136/heartjnl-2012-301877b.70
• Languages: English
• ISSNs: 1355-6037

Abstract

Abstract : Introduction: Fabry disease (FD) is an X linked deficiency of α-galactosidase A which leads to an accumulation of globotriaosylceramide (GL-3) throughout the body, particularly in the heart, brain and kidneys. Although left ventricular hypertrophy (LVH) in 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. Methods: 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). Results: 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/m 2, MWT: 17±6 vs 16±5 mm, LVEDD: 55±6 vs 54±6 mm; EF: 62±5 vs 64±3%; p<0.05) (Abstract 070 figure 1 ). 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) (Abstract 070 figure 2 ). 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). Conclusions: 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).