Document Detail

Severe supravalvar aortic stenosis in familial homozygous hypercholesterolemia.
MedLine Citation:
PMID:  16261269     Owner:  NLM     Status:  MEDLINE    
Familial homozygous hypercholesterolemia is a rare disease with diverse clinical presentations. Patients often present with cutaneous xanthomas, particularly in the Achilles' tendon. They may have significant cardiovascular involvement, including premature atherosclerotic coronary artery disease and valvar and supravalvar aortic stenosis. Standard therapy includes diet modulation, pharmacotherapy, and lipid apheresis. Rarely, patients require surgical intervention for coronary artery bypass grafting and/or relief of the aortic stenosis. We present the case of a patient with severe progressive supravalvar aortic stenosis that ultimately required surgical resection despite aggressive medical therapy.
G Arora; C D Fraser; D L Kearney; J A Vincent
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric cardiology     Volume:  27     ISSN:  0172-0643     ISO Abbreviation:  Pediatr Cardiol     Publication Date:    2006 Mar-Apr
Date Detail:
Created Date:  2006-03-21     Completed Date:  2006-09-08     Revised Date:  2008-02-20    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  282-5     Citation Subset:  IM    
Lillie Frank Abercrombie Section of Cardiology, Texas Children's Hospital, Baylor College of Medicine, Mail Code 19345C, Houston, TX 77030, USA.
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MeSH Terms
Aortic Stenosis, Supravalvular / etiology*,  pathology,  surgery
Atherosclerosis / etiology*,  pathology,  surgery
Child, Preschool
Disease Progression
Hyperlipoproteinemia Type II / complications*,  therapy

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