Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression

Br J Radiol. 2010 Dec;83(996):e249-51. doi: 10.1259/bjr/52065763.

Abstract

Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme α-galactosidase A (α-Gal A) and subsequent cellular storage of the enzyme's substrate globotriaosylceramide (Gb3) and related glycosphingolipids. We report a case of Anderson-Fabry disease with cardiac involvement evaluated with cardiovascular MRI. Disease progression was observed despite enzyme replacement therapy.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Chest Pain / etiology
  • Disease Progression
  • Enzyme Replacement Therapy
  • Fabry Disease / diagnosis*
  • Fabry Disease / therapy
  • Humans
  • Hypertrophy, Left Ventricular / diagnosis*
  • Hypertrophy, Left Ventricular / therapy
  • Magnetic Resonance Imaging / methods
  • Male