Progression of Fabry Cardiomyopathy Despite Enzyme Replacement Therapy

In 2005, a 55-year-old man received the diagnosis of Fabry disease attributable to a Y216C (c647A>G) mutation.1 Heart, kidney, skin, and ocular involvement were documented, and enzyme replacement therapy (ERT) with agalsidase alfa (0.2 mg/kg every other week) was started and regularly administered for 6 years. Baseline cardiac evaluation included electrocardiography, 2-dimensional echocardiography, and cardiac magnetic resonance. During follow-up, acroparesthesias disappeared, and renal function maintained stable with mild proteinuria and normal plasma creatinine values, whereas cardiac involvement significantly worsened with a progressive increase of cardiac maximal wall thickness and mass (interventricular septum from 18 to 25 mm) and myocardial fibrosis as documented by electrocardiography and cardiac magnetic resonance (Figures 1 and …