Aortic Supravalvular Stenosis

Common Name(s)

Aortic Supravalvular Stenosis

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aortic Supravalvular Stenosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aortic Supravalvular Stenosis" returned 37 free, full-text research articles on human participants. First 3 results:

Modeling supravalvular aortic stenosis syndrome with human induced pluripotent stem cells.
 

Author(s): Xin Ge, Yongming Ren, Oscar Bartulos, Min Young Lee, Zhichao Yue, Kun-Yong Kim, Wei Li, Peter J Amos, Esra Cagavi Bozkulak, Amulya Iyer, Wei Zheng, Hongyu Zhao, Kathleen A Martin, Darrell N Kotton, George Tellides, In-Hyun Park, Lixia Yue, Yibing Qyang

Journal: Circulation. 2012 Oct;126(14):1695-704.

 

Supravalvular aortic stenosis (SVAS) is caused by mutations in the elastin (ELN) gene and is characterized by abnormal proliferation of vascular smooth muscle cells (SMCs) that can lead to narrowing or blockage of the ascending aorta and other arterial vessels. Having patient-specific ...

Last Updated: 2 Oct 2012

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Engineered zinc-finger proteins can compensate genetic haploinsufficiency by transcriptional activation of the wild-type allele: application to Willams-Beuren syndrome and supravalvular aortic stenosis.
 

Author(s): Pei Zhang, Angela Huang, Manuel Morales-Ruiz, Barry C Starcher, Yan Huang, William C Sessa, Laura E Niklason, Frank J Giordano

Journal: Hum. Gene Ther.. 2012 Nov;23(11):1186-99.

 

Williams-Beuren syndrome (WBS) and supravalvular aortic stenosis (SVAS) are genetic syndromes marked by the propensity to develop severe vascular stenoses. Vascular lesions in both syndromes are caused by haploinsufficiency of the elastin gene. We used these distinct genetic syndromes ...

Last Updated: 13 Nov 2012

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Postpartum patient with thrombosis of mechanical prostheses and acquired supravalvular aortic stenosis.
 

Author(s): Ricardo Adala Benfatti, Carlos Roberto Martins Júnior, Guilherme Viotto Rodrigues da Silva, José Carlos Dorsa Vieira Pontes

Journal: Rev Bras Cir Cardiovasc. ;26(2):294-7.

 

The blood hypercoagulability in pregnancy increases significantly the incidence of thrombosis of mechanical valves. Acquired supravalvular aortic stenosis is extremely rare. We report the case of an immediate postpartum patient with aortic mechanical prostheses and acquired supravalvular ...

Last Updated: 6 Sep 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aortic Supravalvular Stenosis" returned 2 free, full-text review articles on human participants. First 3 results:

Supravalvular aortic stenosis: elastin arteriopathy.
 

Author(s): Giuseppe Merla, Nicola Brunetti-Pierri, Pasquale Piccolo, Lucia Micale, Maria Nicla Loviglio

Journal: Circ Cardiovasc Genet. 2012 Dec;5(6):692-6.

 

Supravalvular aortic stenosis is a systemic elastin (ELN) arteriopathy that disproportionately affects the supravalvular aorta. ELN arteriopathy may be present in a nonsyndromic condition or in syndromic conditions such as Williams-Beuren syndrome. The anatomic findings include congenital ...

Last Updated: 19 Dec 2012

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Left ventricular apical aneurysm as a consequence of diffuse type congenital nonfamilial supravalvular aortic stenosis in a 30-year-old female.
 

Author(s): Gulumser Heper, Sedat Kose, Ayhan Kilic, Basri Amasyali, Ersoy Isik

Journal: Int Heart J. 2005 Jan;46(1):153-9.

 

Congenital nonfamilial supravalvular aortic stenosis (SVAS) is relatively rare, its diffuse type being the least common. We present a 30-year-old woman with diffuse SVAS complicated with left ventricular apical aneurysm. We believe that subtle left ventricular myocardial ischemia ...

Last Updated: 29 Apr 2005

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Efficacy of Minoxidil in Children With Williams-Beuren Syndrome
 

Status: Recruiting

Condition Summary: Williams Beuren Syndrome

 

Last Updated: 14 Jan 2014

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Fat Distribution and Glucose Metabolism in Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 5 Mar 2014

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The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
 

Status: Recruiting

Condition Summary: Velocardiofacial Syndrome; Williams Syndrome; Fragile X Syndrome

 

Last Updated: 31 May 2012

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