Document Detail


Homozygous familial hypercholestrolaemia presents with supravalvular aortic stenosis.
MedLine Citation:
PMID:  22755353     Owner:  NLM     Status:  In-Process    
Abstract/OtherAbstract:
Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with earlier anginal symptoms due to supravalvular aortic stenosis. A 17-year old South Asian boy presented himself with chest pain associated with mild to moderate exercise. He was diagnosed as a case of Homozygous Familial Hypercholestrolaemia. His anginal symptoms were due to an underlying supravalvular aortic stenosis lesion which is a rare presentation of Homozygous Familial Hypercholestrolaemia.
Authors:
Sharoon Qaiser; Sidrah Sheikh; Muhammad Shoaib Malik
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  JPMA. The Journal of the Pakistan Medical Association     Volume:  62     ISSN:  0030-9982     ISO Abbreviation:  J Pak Med Assoc     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-07-04     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  7501162     Medline TA:  J Pak Med Assoc     Country:  Pakistan    
Other Details:
Languages:  eng     Pagination:  612-4     Citation Subset:  IM    
Affiliation:
Department of Internal Medicine, Sir Ganga Ram Hospital, FJMC, Lahore, Pakistan.
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