title: Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression.
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.
authors.affiliation: Department of Radiology, University Federico II, Napoli, Italy. mimbriaco@hotmail.com
authors.forename: M
authors.initials: M
authors.lastname: Imbriaco
authors.forename: G
authors.initials: G
authors.lastname: Messalli
authors.forename: G
authors.initials: G
authors.lastname: Avitabile
authors.forename: A
authors.initials: A
authors.lastname: Cuocolo
authors.forename: S
authors.initials: S
authors.lastname: Maurea
authors.forename: F
authors.initials: F
authors.lastname: Soscia
authors.forename: A
authors.initials: A
authors.lastname: Pisani
mesh_terms: D000328:Adult; D002637:Chest Pain / Q000209:etiology; D018450:Disease Progression; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000628:therapy; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male