A. Chabas et al., UNUSUAL EXPRESSION OF GAUCHERS-DISEASE - CARDIOVASCULAR CALCIFICATIONS IN 3 SIBS HOMOZYGOUS FOR THE D409H MUTATION, Journal of Medical Genetics, 32(9), 1995, pp. 740-742
Three sisters suffering from an unusual form of Gaucher's disease are
described. These patients had cardiovascular abnormalities consisting
of calcification of the ascending aorta and of the aortic and mitral v
alves. Neurological findings included ophthalmoplegia and saccadic eye
movements in two patients, and tonic-clonic seizures in the third. Th
e three patients died, two of them after having undergone aortic valve
replacement. Tissue was obtained from one of the sibs and fibroblast
and liver beta-glucocerebrosidase activity was reduced to 4% and 11% o
f mean normal values. Genotype analysis indicated that the patient was
homozygous for the D409H mutation. It is tempting to relate the pheno
type of severe cardiac involvement to the D409H/D409H genotype, althou
gh further cases will be needed before this association can be confirm
ed.