Article
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.
Lancet (London, England) - 14 Oct 1995
Abrahamov A, Elstein D, Gross-Tsur V, Farber B, Glaser Y, Hadas-Halpern I, Ronen S, Tafakjdi M, Horowitz M, Zimran A
Abstract excerpt
Gaucher's disease is the most prevalent sphingolipid storage disease, characterised by substantial genetic and phenotypic variability. Cardiac manifestations are rare. We report 12 Arab Gaucher's disease patients, 2-20 years of age, who presented with oculomotor apraxia but only slight classic signs of the disease. All but the youngest had calcifications of the aortic or mitral valves or both. All these patients...
Topics
- Adolescent
- Adult
- Calcinosis
- Child
- Child, Preschool
- Female
- Gaucher Disease
- Genetic Variation
- Genotype
- Heart Valve Diseases
- Humans