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

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: 18 Oct 2016

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Recurrent pulseless electrical activity in a patient with coronary vasospasm and supravalvular aortic stenosis: a case report.
 

Author(s): Achim Lother, Friedhelm Beyersdorf, Hans H Osterhues, Christoph Bode, Tobias Wengenmayer

Journal:

 

Pulseless electrical activity cardiac arrest is associated with poor outcomes and the identification of potentially reversible reasons for cardiac arrest is fundamental.

Last Updated: 24 May 2016

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Integrin β3 inhibition is a therapeutic strategy for supravalvular aortic stenosis.
 

Author(s): Ashish Misra, Abdul Q Sheikh, Abhishek Kumar, Jiesi Luo, Jiasheng Zhang, Robert B Hinton, Leslie Smoot, Paige Kaplan, Zsolt Urban, Yibing Qyang, George Tellides, Daniel M Greif

Journal: J. Exp. Med.. 2016 Mar;213(3):451-63.

 

The aorta is the largest artery in the body, yet processes underlying aortic pathology are poorly understood. The arterial media consists of circumferential layers of elastic lamellae and smooth muscle cells (SMCs), and many arterial diseases are characterized by defective lamellae ...

Last Updated: 8 Mar 2016

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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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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: 30 Jun 2017

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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: 30 Jun 2017

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WS-SAVE Study (Williams Syndrome Skin and Vessel Elasticity Study)
 

Status: Recruiting

Condition Summary: Williams Syndrome; Cardiovascular Disease; Multisystem Developmental Disorder; Elastin Gene Deletion; Hypertension

 

Last Updated: 30 Jun 2017

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