title: Delayed diagnosis of Fabry disease presenting as myocardial ischaemia.
abstract: Cardiovascular complications due to the accumulation of globotriaosylceramide in cardiac cells occur in almost all patients affected by Anderson-Fabry disease. Cardiac manifestations include left ventricular hypertrophy, mitral regurgitation, conduction disturbances and myocardial ischaemia. We report a case of Fabry's disease diagnosed several years after the onset of early cardiac symptoms.
authors.affiliation: Department of Cardiology, Azienda Ospedali Riuniti Villa Sofia & Cervello, Palermo, Italy. marcellomarci@katamail.com
authors.forename: Marcello
authors.initials: M
authors.lastname: Marcì
authors.forename: Giovanni
authors.initials: G
authors.lastname: Duro
authors.forename: Antonino
authors.initials: A
authors.lastname: Tuttolomondo
authors.forename: Bruno
authors.initials: B
authors.lastname: Tuttolomondo
authors.forename: Antonio
authors.initials: A
authors.lastname: Pinto
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Cirrincione
authors.forename: Nicola
authors.initials: N
authors.lastname: Sanfilippo
mesh_terms: D057210:Delayed Diagnosis; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017202:Myocardial Ischemia / Q000175:diagnosis / Q000209:etiology*