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Genetic and Rare Diseases Information Center (GARD)

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Supravalvular aortic stenosis


Other Names for this Disease
  • Aortic supravalvular stenosis
  • Supravalvar aortic stenosis, Eisenberg type
  • SVAS
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Overview


Supravalvular aortic stenosis (SVAS) is a type of heart defect that develops before birth. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person; some individuals may die in infancy while others never experience symptoms. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery. SVAS can be caused by mutations in the ELN gene and be inherited in an autosomal dominant manner, although some individuals that inherit the mutated gene never develop features of the condition (called reduced penetrance). SVAS can also be associated with Williams syndrome. Treatment may include surgery to repair the condition in severe cases.[1][2]
Last updated: 7/5/2013

References

  1. Supravalvular aortic stenosis. Genetics Home Reference. May 2012; http://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis. Accessed 7/5/2013.
  2. Patrice Bouvagnet. Supravalvular aortic stenosis. Orphanet. February 2007; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3193. Accessed 7/5/2013.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Supravalvular aortic stenosis. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Supravalvular aortic stenosis. Click on the link to view a sample search on this topic.