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

 

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

Isolated Diffuse Supravalvular Aortic Stenosis with Severe Aortic Narrowing in a 41-Year-Old Man.
 

Author(s): Vinod Namana, Sabah Siddiqui, Ram Balasubramanian, Jacob Shani, Adnan Sadiq

Journal:

 

Isolated supravalvular aortic stenosis in adults is a rare form of left ventricular outflow tract obstruction. We describe a case in a 41-year-old man in whom the supravalvular aorta had narrowed to approximately the size of the left anterior descending coronary artery. The patient ...

Last Updated: 31 Dec 1969

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Novel ELN mutation in a family with supravalvular aortic stenosis and intracranial aneurysm.
 

Author(s): Anne Marie Jelsig, Zsolt Urban, Vishwanathan Hucthagowder, Henrik Nissen, Lilian Bomme Ousager

Journal: Eur J Med Genet. 2017 Feb;60(2):110-113.

 

Pathogenic germline mutations in ELN can be detected in patients with supravalvular aortic stenosis. The mutation might occur de novo or be inherited following an autosomal dominant pattern of inheritance. In this report we describe a three-generation family suffering from supravalvular ...

Last Updated: 31 Dec 1969

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Bovine aortic arch with supravalvular aortic stenosis.
 

Author(s): Mohammed Idhrees, Vijay Thomas Cherian, Sabarinath Menon, Thomas Mathew, Baiju S Dharan, K Jayakumar

Journal: Indian Heart J. 2016 Sep;68 Suppl 2():S83-S84.

 

A 5-year-old boy was diagnosed to have supravalvular aortic stenosis (SVAS). On evaluation of CT angiogram, there was associated bovine aortic arch (BAA). Association of BAA with SVAS has not been previously reported in literature, and to best of our knowledge, this is the first case ...

Last Updated: 31 Dec 1969

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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 1 free, full-text review articles on human participants. First 3 results:

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: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank
 

Status: Recruiting

Condition Summary: Williams Syndrome; Supravalvular Aortic Stenosis; Cardiovascular Disease

 

Last Updated: 31 Aug 2018

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Impact of Elastin Mediated Vascular Stiffness on End Organs
 

Status: Recruiting

Condition Summary: Williams Syndrome; Supravalvular Aortic Stenosis; Cardiovascular Disease

 

Last Updated: 20 Jul 2018

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