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(Circulation. 1998;98:1457-1459.)
© 1998 American Heart Association, Inc.

Images in Cardiovascular Medicine

Restrictive Cardiomyopathy Secondary to Fabry's Disease

Warren J. Cantor, MD; Jagdish Butany, MB, BS; Mark Iwanochko, MD, MSC; ; Peter Liu, MD

From The Toronto Hospital, Toronto, Ontario, Canada.

Correspondence to Mark Iwanochko, MD, EW5–558, The Toronto Hospital, Western Division, 399 Bathhurst St, Toronto, Ontario, Canada M5T 2S8.

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 -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.

View larger version (163K): [in this window] [in a new window]   Figure 1. Cardiac MRI (T1-weighted spin echo). Field of view 24x24 cm. Slice thickness 5 mm. Coronal view (TE=12 ms, TR=869 ms).

View larger version (22K): [in this window] [in a new window]   Figure 2. Right atrial pressure tracing with simultaneous ECG.

View larger version (119K): [in this window] [in a new window]   Figure 3. Light microscopy of tissue from cardiac biopsy (Elastic trichrome stain. Original magnification x200).

View larger version (163K): [in this window] [in a new window]   Figure 4. Electron microscopy of cardiac tissue (original magnification x2000).

View larger version (146K): [in this window] [in a new window]   Figure 5. Gross specimen of explanted heart.

Footnotes

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.

Circulation encourages readers to submit cardiovascular images to Dr Hugh A. McAllister, Jr, St Luke's Episcopal Hospital and Texas Heart Institute, 6720 Bertner Ave, MC1–267, Houston, TX 77030.

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