Article
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation.
Clinical genetics - 1 May 2001
George R, McMahon J, Lytle B, Clark B, Lichtin A
Abstract excerpt
Gaucher's disease is an autosomal recessive inherited defect of the lysosomal enzyme glucocerebrosidase, which leads to glucocerebroside accumulation in the reticuloendothelial system. Homozygosity for the D409H mutation has been associated with cardiovascular valvular disease. We present a case of a 17-year-old Palestinian patient who presented with severe aortic and mitral valvular calcification, as well as...
Topics
- Adolescent
- Amino Acid Substitution
- Aorta, Thoracic
- Calcinosis
- Gaucher Disease
- Homozygote
- Humans
- Male
- Microscopy, Electron
- Mitral Valve
- Mutation