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.

Source: Advocacy organizations associated with the condition.

 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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

Familial hypercholesterolemia supravalvular aortic stenosis and extensive atherosclerosis.
 

Author(s): Rajpal Prajapati, Vikas Agrawal

Journal: Indian Heart J. ;70(4):575-577.

 

Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This can lead to premature coronary atherosclerosis and cardiac-related death. The symptoms are more severe in the homozygous type of the disease. ...

Last Updated: 31 Dec 1969

Go To URL
Early and mid-term outcomes after surgical repair of congenital supravalvular aortic stenosis with the Doty technique.
 

Author(s): Onur Işık, Muhammet Akyüz, Engin Karakuş, Esra Işık, Mehmet Fatih Ayık, Ertürk Levent, Yüksel Atay

Journal: Turk Kardiyol Dern Ars. 2018 07;46(5):385-391.

 

The aim of this study was to evaluate the efficacy and safety of the Doty surgical approach in pediatric patients with congenital supravalvular aortic stenosis (SVAS) by examining early and mid-term outcomes.

Last Updated: 31 Dec 1969

Go To URL
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

Go To URL

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

Go To URL
 
 
Top

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: 1 Nov 2018

Go to URL
Impact of Elastin Mediated Vascular Stiffness on End Organs
 

Status: Recruiting

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

 

Last Updated: 3 Oct 2018

Go to URL