Learn About Supravalvular Aortic Stenosis

What is the definition of Supravalvular Aortic Stenosis?
Supravalvular aortic stenosis (SVAS) is a type of heart defect. It is characterized by a narrowing (stenosis) of the section of the aorta just above the valve that connects the aorta to the heart (aortic valve). The severity of SVAS varies from person to person. If symptoms develop, they may include shortness of breath, chest pain, murmur, and/or eventual heart failure. Some affected individuals also have defects in other blood vessels, such as the pulmonary artery. SVAS can be caused by genetic changes in the ELN gene and be inherited in an autosomal dominant manner, although some individuals that inherit the mutated gene never develop features of the condition (called reduced penetrance).
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What are the alternative names for Supravalvular Aortic Stenosis?
  • Supravalvular aortic stenosis
  • Aortic supravalvular stenosis
  • SVAS
  • Supravalvar aortic stenosis, Eisenberg type
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What are the latest Supravalvular Aortic Stenosis Clinical Trials?
Defining the Brain Phenotype of Children With Williams Syndrome

Background: - Little is known about how the brain changes during childhood and adolescence, how genes affect this process, or how the brains of people with Williams syndrome change during this period. Genetic features of Williams syndrome affect the brain s development, but the details of this process have not been studied over time. Researchers are interested in using magnetic resonance imaging to study how ...

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Impact of Elastin Mediated Vascular Stiffness on End Organs

Background: People with Williams Syndrome (WS) and supravalvular aortic stenosis (SVAS) have less elasticity in their blood vessels. This is called blood vessel stiffness. Blood vessels may have focal narrowings called stenoses or may just be globally more narrow.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Supravalvular Aortic Stenosis?
Repair of a stenotic bicuspid aortic valve by extensive leaflet shaving and commissuroplasty.
Stent Angioplasty for Post-Operative Coronary Artery Stenosis in Infants.
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