Restrictive Cardiomyopathy Secondary to Fabry’s Disease

A 53-year-old woman presented with progressive dyspnea.Family history was positive for Fabry's disease.Cardiac MRI showed marked thickening of the left ventricle (Figure 1, arrow).Cardiac catheterization revealed a mean right atrial pressure of 16 mm Hg with large a waves up to 26 mm Hg (Figure 2, arrow).A right ventricular endomyocardial biopsy was performed.Light microscopy (Figure 3) showed myocardial fiber hypertrophy and PAS-positive vacuoles.Electron microscopy (Figure 4) showed complex concentric lamellar bodies (arrows) characteristic of Fabry's disease.Leukocyte ␣-galactosidase activity was decreased, confirming the diagnosis.The patient remained severely symptomatic despite medical therapy and was referred for cardiac transplantation.The explanted heart is shown in Figure 5.