title: [Cardiac involvement in Fabry's disease - typical disease course and diagnostic problems].
abstract: Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment of proper heart function. Wide range of symptoms makes diagnosis difficult. We present a case of a 43 year-old male with typical Fabry disease.
authors.affiliation: Oddział Kardiologii, Szpital Specjalistyczny im. Józefa Dietla, Kraków. michalo@op.pl
authors.forename: Michał
authors.initials: M
authors.lastname: Owsiak
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Kwiecień-Sobstel
authors.forename: Ewa
authors.initials: E
authors.lastname: Mirek-Bryniarska
authors.forename: Leszek
authors.initials: L
authors.lastname: Bryniarski
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis* / Q000628:therapy; D006801:Humans; D008297:Male