Aortic Supravalvular Stenosis

Common Name(s)

Aortic Supravalvular Stenosis

Aortic Supravalvular Stenosis (SVAS) is a rare genetic disorder where the beginning portion of the aorta is abnormally narrow. The aorta is the large blood vessel leaving the heart to deliver oxygen-rich blood to the body. This narrowing can cause the heart to work harder and can sometimes lead to ventricular hypertrophy, or enlargement of the lower chambers of the heart. If left untreated, it can cause shortness of breath, chest pain, or even heart failure. SVAS generally has a 50% chance of passing on to an affected individual's children, so early diagnosis and counseling is important. It is almost always a result of a harmful change in genetic material which instructs thte body how to make elastin, the protein which provides body tissue its elasticity. It is often associated with Williams-Beuren syndrome, which includes mental retardation, a peculiar face, and high blood calicum levels. It can be diagnosed with a physical exam, including listening to the heart with a stethoscope for a murmur, and an imaging test called an echocardiogram. Regular follow-up is recommended (every 6 months for infants and each year in children) in order to monitor the evolution of the stenosis, which can be corrected with surgery.

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Advocacy and Support Organizations

 

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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 41 free, full-text research articles on human participants. First 3 results:

Supravalvular aortic stenosis in homozygous familial hypercholesterolemia.
 

Author(s): George Giannakoulas, Sophia-Anastasia Mouratoglou, Anastasios Kelekis, Stavros Hatzimiltiades, Haralaos Karvounis

Journal: Hellenic J Cardiol. ;54(5):392-3.

 

Last Updated: 8 Oct 2013

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Mid-term outcome after surgical repair of congenital supravalvular aortic stenosis by extended aortoplasty.
 

Author(s): Farhad Bakhtiary, Mohammed Amer, Christian D Etz, Ingo Dähnert, Friedrich Wilhelm Mohr, Wilfried Bellinghausen, Martin Kostelka

Journal: Interact Cardiovasc Thorac Surg. 2013 Oct;17(4):688-90.

 

Congenital supravalvular aortic stenosis (SVAS) is a rare arteriopathy associated with the Williams-Beuren syndrome (WBS) and other elastin gene deletions. Our objective was to review the mid-term outcomes of SVAS repair with extended aortoplasty.

Last Updated: 25 Sep 2013

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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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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

Response Inhibition Training for Children With Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 7 Aug 2014

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Defining the Brain Phenotype of Children With Williams Syndrome
 

Status: Recruiting

Condition Summary: Williams Syndrome

 

Last Updated: 14 Mar 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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