Widespread Valvular and Vascular Calcification in Type III Gaucher Disease

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Date
2018-11-27
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Brieflands
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A 13-year-old girl, as a known case of type III Gaucher disease, was referred to us for a cardiac assessment. Our investigations revealed wall thickening and calcification in the ascending thoracic aorta, transverse arch, and isthmus. Calcification was also present in the proximal portion of the brachiocephalic trunk while the osteal narrowing of right common carotid was also notable. The other finding included isolated thrombocytopenia. We decided to perform surgery after two months of enzyme replacement therapy.
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