Journal article

Cardiac involvement in Fabry's disease.

Kathy Nicholls

Heart Lung and Circulation | Published : 2005


Clinical Fabry's disease is due to any of multiple mutations in the X-linked alpha-galactosidase gene. These mutations are kindred-specific, often spontaneous, and produce varying degrees of functional enzyme deficiency resulting in deposits of specific glycosphingolipid (cerumide), especially in the vasculature, kidneys, heart and reticuloendothelial tissue. Disease frequency has probably been over-estimated at 1/40,000; so few centres have developed clinical experience of the disease, though the disease has been identified in all major racial groups.