Type IIIC Gaucher’s Disease
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.
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.
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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