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Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement
Clinical Cardiology, 10/21/09
Cindik N et al. – A 14–year–old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery.
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