Enzyme replacement therapy improves cardiac features and severity of Fabry disease

Mol Genet Metab. 2012 Sep;107(1-2):197-202. doi: 10.1016/j.ymgme.2012.05.011. Epub 2012 May 29.


Background: 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.

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). 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); QT(c) 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).

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).

MeSH terms

  • Adult
  • Aorta / drug effects
  • Aorta / pathology
  • Echocardiography / drug effects
  • Electrocardiography / drug effects
  • Enzyme Replacement Therapy*
  • Fabry Disease / complications*
  • Fabry Disease / drug therapy*
  • Female
  • Humans
  • Hypertrophy, Left Ventricular / drug therapy*
  • Hypertrophy, Left Ventricular / etiology*
  • Hypertrophy, Left Ventricular / physiopathology
  • Male
  • Middle Aged
  • Severity of Illness Index
  • Stroke Volume / drug effects
  • Treatment Outcome
  • alpha-Galactosidase / administration & dosage
  • alpha-Galactosidase / adverse effects
  • alpha-Galactosidase / therapeutic use*


  • alpha-Galactosidase