Restrictive Cardiomyopathy Secondary to Fabry’s Disease
A53-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 α-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⇓.
The editor of Images in Cardiovascular Medicine is Hugh A. McAllister, Jr, MD, Chief, Department of Pathology, St Luke’s Episcopal Hospital and Texas Heart Institute, and Clinical Professor of Pathology, University of Texas Medical School and Baylor College of Medicine.
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