Supravalvular Aortic Stenosis (Aortic Supravalvular Stenosis)

A pathological constriction occurring in the region above the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.
Also Known As:
Aortic Supravalvular Stenosis; Aortic Stenosis, Supravalvular; Aortic Supravalvular Stenoses; Stenoses, Aortic Supravalvular; Stenosis, Aortic Supravalvular; Stenosis, Supravalvular Aortic; Supravalvular Stenoses, Aortic; Supravalvular Stenosis, Aortic
Networked: 130 relevant articles (0 outcomes, 8 trials/studies)

Disease Context: Research Results

Related Diseases

1. Williams Syndrome (Williams-Beuren Syndrome)
2. Cutis Laxa
3. Vascular Diseases (Vascular Disease)
4. Atherosclerotic Plaque (Atheroma)
5. Pathologic Constriction (Stenosis)


1. Mecham, Robert P: 10 articles (12/2011 - 05/2003)
2. Knutsen, Russell H: 7 articles (12/2011 - 11/2003)
3. Faury, Gilles: 5 articles (01/2012 - 11/2003)
4. Li, Dean Y: 5 articles (02/2008 - 11/2003)
5. Urbán, Z: 4 articles (11/2001 - 06/2000)
6. Pezet, Mylène: 3 articles (01/2012 - 11/2003)
7. Wagenseil, Jessica E: 3 articles (12/2009 - 09/2005)
8. Starcher, Barry: 3 articles (12/2009 - 11/2003)
9. Urban, Zsolt: 3 articles (02/2007 - 11/2005)
10. Jacob, Marie-Paule: 2 articles (08/2014 - 02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Supravalvular Aortic Stenosis:
1. ElastinIBA
2. Coarctation of the aortaIBA
3. ReninIBA
4. LDL Receptors (LDL Receptor)IBA
6. fibrillinIBA
12/01/2009 - "Even though elastin and fibrillin-1 are the major structural components of elastic fibers, mutations in elastin and fibrillin-1 lead to narrowing of large arteries in supravalvular aortic stenosis and dilation of the ascending aorta in Marfan syndrome, respectively. "
01/01/1994 - "The relation between Marfan syndrome and fibrillin mutations and that between supravalvular aortic stenosis and William syndromes and elastin mutations are reviewed, as is the presence of microdeletions in 22q11 in DiGeorge syndrome, velocardiofacial syndrome, and nonsyndromic patients with conotruncal malformations. "
01/01/2012 - "An alteration of the elastin (Eln) or fibrillin (Fbn) gene products leads to severe genetic pathologies of the cardiovascular system, such as supravalvular aortic stenosis, or Williams Beuren syndrome--in which elastin deficiency induces aortic stenoses--or Marfan syndrome, in which on the contrary fibrillin-1 deficiency promotes the appearance of aortic aneurysms. "
01/01/2013 - "Severe heritable elastic fibre diseases are caused by mutations in elastic fibre components; for example, mutations in elastin cause supravalvular aortic stenosis and autosomal dominant cutis laxa, mutations in fibrillin-1 cause Marfan syndrome and Weill-Marchesani syndrome, and mutations in fibulins-4 and -5 cause autosomal recessive cutis laxa. "
11/19/1999 - "Both morphometric parameters analyzed by using automated image analysis and immunofluorescence labeling with monoclonal antibodies against elastin and fibrillin 1 showed a disorganized pre-elastic (oxytalan and elaunin) and mature elastic fibers in the dermis of 10 Williams syndrome patients compared with five healthy children and one patient with isolated supravalvular aortic stenosis. "
7. Vitamin DFDA LinkGeneric
8. CholesterolIBA
9. Calcitonin (Calcitonin, Eel)FDA LinkGeneric
10. Sirolimus (Rapamycin)FDA Link

Therapies and Procedures

1. Plasmapheresis
2. Transplants (Transplant)
3. Angioplasty (Angioplasty, Transluminal)
4. Stents
5. Coronary Artery Bypass (Coronary Artery Bypass Surgery)