Document Detail

Cardiac magnetic resonance imaging in patients with Fabry's disease.
MedLine Citation:
PMID:  20730727     Owner:  NLM     Status:  In-Process    
Fabry's disease (FD) is a rare hereditary disorder caused by the loss of alpha galactosidase A activity leading to accumulation of glycosphingolipids in various organs including hypertrophy of the heart. Most reports on cardiac involvement in FD focus on the left ventricular hypertrophy (LVH) and its relation to diastolic function. However, recent studies demonstrated large subset of patients with FD and right ventricle (RV) hypertophy. The accurate depiction of RV volumes, function and mass is possible with cardiovascular magnetic resonance (CMR). The CMR study can be also used to identify typically localised regions of intramyocardial fibrosis (infero-lateral segments of the LV), which have been shown to be a marker of inefficacious response to enzyme replacement therapy. We present series of 8 patients with genetically confirmed FD who underwent CMR study. We demonstrated a typical concentric and diffuse pattern of LVH with RV involvement in patients with the most severe LVH without significant impact on RV function and volumes. We showed that myocardial fibrosis can be observed not only in LV but also in RV. In 2 patients FD coexisted with symptomatic coronary artery disease with evidence of subendocardial myocardial fibrosis typical for ischaemic origin in one patient. The CMR confirmation of the presence of FD in one patient at an early stage of the disease, before the onset of advanced hypertrophy or failure of other organs, supports the value of this imaging technique in differential diagnosis of concentric and diffuse LVH.
Lukasz A Małek; Lidia Chojnowska; Mateusz Spiewak; Mariusz Kłopotowski; Jolanta Miśko; Joanna Petryka; Barbara Miłosz; Witold Ruzyłło
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Kardiologia polska     Volume:  68     ISSN:  0022-9032     ISO Abbreviation:  Kardiol Pol     Publication Date:  2010 Aug 
Date Detail:
Created Date:  2010-08-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0376352     Medline TA:  Kardiol Pol     Country:  Poland    
Other Details:
Languages:  eng     Pagination:  929-34     Citation Subset:  IM    
Department of Interventional Cardiology and Angiology, Institute of Cardiology, Warsaw, Poland.
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