Document Detail

Delayed diagnosis of Fabry disease presenting as myocardial ischaemia.
MedLine Citation:
PMID:  22275748     Owner:  NLM     Status:  MEDLINE    
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.
Marcello Marcì; Giovanni Duro; Antonino Tuttolomondo; Bruno Tuttolomondo; Antonio Pinto; Vincenzo Cirrincione; Nicola Sanfilippo
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Hellenic journal of cardiology : HJC = Hellēnikē kardiologikē epitheōrēsē     Volume:  53     ISSN:  2241-5955     ISO Abbreviation:  Hellenic J Cardiol     Publication Date:    2012 Jan-Feb
Date Detail:
Created Date:  2012-01-25     Completed Date:  2012-05-21     Revised Date:  2013-08-07    
Medline Journal Info:
Nlm Unique ID:  101257381     Medline TA:  Hellenic J Cardiol     Country:  Greece    
Other Details:
Languages:  eng     Pagination:  77-9     Citation Subset:  IM    
Department of Cardiology, Azienda Ospedali Riuniti Villa Sofia & Cervello, Palermo, Italy.
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MeSH Terms
Delayed Diagnosis*
Fabry Disease / complications,  diagnosis*
Middle Aged
Myocardial Ischemia / diagnosis,  etiology*
Erratum In:
Hellenic J Cardiol. 2012 Nov-Dec;53(6):485
Note: Tuttolomondo, Bruno [corrected to Tuttolomondo, Antonino]

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