Right ventricular involvement in patients with Fabry's disease and the effect of enzyme replacement therapy

According to echocardiography reports, Fabry cardiomyopathy not only affects the left ventricle (LV) but also the right ventricle (RV). Until now no MRI studies about the effect of enzyme replacement therapy (ERT) on the RV are available. We evaluated the effect of ERT on the RV.

In this prospective trial 14 patients with genetically proven Fabry's disease were examined using a 1.5 T MR scanner before ERT and after 13 ± 1 months of ERT. All patients underwent cardiac MR imaging and the RV/LV cardiac morphology and function were analyzed.

At baseline examination the values were as follows: RV mass 31 ± 6 g/m (2), end-diastolic volume (EDV) 88 ± 13 ml/m (2), end-systolic volume (ESV) 39 ± 9 ml/m (2), stroke volume (SV) 49 ± 7 ml/m (2) and ejection fraction (EF) 56 ± 5 %. The RV mass and EDV decreased significantly after 13 ± 1 months on ERT (mass 27 ± 7 g/m (2), p < 0.05, EDV 76 ± 24 ml/m (2), p < 0.05), with no significant change of ESV (33 ± 13 ml/m (2)), SV (43 ± 12 ml/m (2)) and EF (57 ± 7 %). The LV mass (102 ± 26 g/m (2) vs. 94 ± 27 g/m (2), p < 0.05), EDV (76 ± 13 ml/m (2) vs. 66 ± 22 ml/m (2), p < 0.05) and ESV (29 ± 9 ml/m (2) vs. 23 ± 9 ml/m (2), p < 0.05) decreased significantly while the EF (64 ± 7 % vs. 66 ± 5 %; p < 0.05) increased significantly.

Besides the known beneficial effect on the LV, ERT improves RV mass and EDV.