P406061-Cover 1..2

Anderson-Fabry DiseaseGLOSSARYhypertrophy increase in thickness of muscle.valvular pertaining to the heart valves.THIS DISEASE IS A RARE, INBORN X-LINKEDlysosomal storage disorder. The major substrate of thedeficient alpha-galactosidase A enzyme, globotriaosylceramide,accumulates in cells of the cardiovascularsystem. This leads to structural valvular abnormalitiesand enlargement of the heart with left ventricularhypertrophy, particularly in patients over age 40. Theheart muscle involvement includes cardiomyopathy, butit may be the only manifestation of this disease. Geneticabnormalities are X-linked and clinical manifestations infemale heterozygotes are rare. Serious clinical disease,fortunately, only affects less than 2% of heterozygousfemales.A new therapeutic strategy for treatment of lysosomalstorage diseases with enzyme replacement therapy hasbecome available.BIBLIOGRAPHYKampmann, C., Baehner, F., Whybra, C. et al. Cardiac manifestationsof Anderson Fabry disease in heterozygous females. J. Am. Coll.Cardiol., 40:1668–74, 2002.23