Document Detail

Dilated cardiomyopathy and progressive familial intrahepatic cholestasis.
MedLine Citation:
PMID:  24654243     Owner:  NLM     Status:  In-Data-Review    
This case is of a 29-year-old man with progressive familial intrahepatic cholestasis type 1 also known as Byler's disease. At the age of 21, our patient developed non-ischaemic dilated cardiomyopathy. Cardiac MRI demonstrated global wall thinning, with significant areas of myocardial fibrosis in the mid and epicardial walls from base to apex on postgadolinium late contrast enhanced images. No shared genetic loci between dilated cardiomyopathy and Byler's or cholestatic liver disease have yet been found. This presents the first documented case of non-ischaemic dilated cardiomyopathy, with evidence of mid wall fibrosis, in association with an established diagnosis of progressive familial intrahepatic cholestasis type 1 since childhood.
Stephanie James; Deirdre Waterhouse; Kenneth McDonald; Rory O'Hanlon
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Publication Detail:
Type:  Journal Article     Date:  2014-03-20
Journal Detail:
Title:  BMJ case reports     Volume:  2014     ISSN:  1757-790X     ISO Abbreviation:  BMJ Case Rep     Publication Date:  2014  
Date Detail:
Created Date:  2014-03-21     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101526291     Medline TA:  BMJ Case Rep     Country:  England    
Other Details:
Languages:  eng     Pagination:  -     Citation Subset:  IM    
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