(Circulation. 2000;102:e69.)
© 2000 American Heart Association, Inc.
Images in Cardiovascular Medicine |
Type IIIC Gaucher’s Disease
From the Cleveland Clinic Foundation, Cleveland, Ohio.
Correspondence to Douglas S. Moodie, MD, MS, Desk A120, 9500 Euclid Ave, Cleveland, OH 44195. E-mail moodied{at}ccf.org
Gaucher’s
disease, an autosomal recessive storage disease, leads to deposition of
glucocerebrosides in various organs. Recently, type IIIC Gaucher’s
disease, homozygous for the 409H (1342C) mutation, has been identified.
It is a rare disease that has cardiac valvular manifestations
unlike the other forms of Gaucher’s disease. We report a case of an
18-year-old Palestinian man with a family history of Gaucher’s disease
who presented with shortness of breath, dyspnea on exertion,
and orthopnea. He also had diffuse, well-defined corneal opacification
and hyperoxalosis. The chest radiograph showed moderate cardiomegaly,
increased pulmonary vascularity, interstitial
markings consistent with edema, prominence of the left atrium,
and significant calcification of the ascending aorta and anterior
aspect of the heart. Cardiac MRI (Figure 1
) revealed severe mitral
stenosis and insufficiency, severe aortic stenosis,
relative hypoplasia of the entire thoracic aorta with wall thickening
and calcification noted from the aortic root to the proximal descending
portion, and narrowing of the ostia of the innominate and left common
carotid arteries. An echocardiogram revealed normal left
ventricular function and significant aortic and mitral
regurgitation and stenosis.
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The patient underwent successful aortic and mitral valve replacement,
replacement of the ascending aorta and proximal aortic arch with a
Hemashield woven Dacron graft, and vein grafts to the right
coronary artery and left anterior descending coronary
artery. The excised aortic valve showed significant degeneration and
calcification (Figure 2). Electron
microscopy of the mitral valve revealed numerous large cells, some with
a spindle shape and others with a shape similar to that of
macrophage cells (Figure 3).
These cells had abundant rough endoplasmic reticulum in the cytoplasm
that contained fine fibrillar material. All these findings were
consistent with Gaucher’s disease. The patient did well after
surgery and was placed on enzyme replacement
therapy.
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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 the Circulation Editorial Office, St Luke’s Episcopal Hospital/Texas Heart Institute, 6720 Bertner Ave, MC1-267, Houston, TX 77030.
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