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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).
What are the alternative names for Supravalvular Aortic Stenosis?
  • Supravalvular aortic stenosis
  • Aortic supravalvular stenosis
  • SVAS
  • Supravalvar aortic stenosis, Eisenberg type
Who are the top Supravalvular Aortic Stenosis Local Doctors?
Isaac J. George
Distinguished in Supravalvular Aortic Stenosis
Thoracic Surgery | General Surgery
Distinguished in Supravalvular Aortic Stenosis
Thoracic Surgery | General Surgery

Trustees Of Columbia University In The City Of New York

622 W 168th St, 
New York, NY 
Languages Spoken:
English
Offers Telehealth

Isaac George is a Thoracic Surgeon and a General Surgeon in New York, New York. Dr. George is rated as a Distinguished provider by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Aortic Valve Stenosis, Mitral Valve Regurgitation, Aortic Regurgitation, Aortic Valve Replacement, and Transcatheter Aortic Valve Replacement (TAVR).

Elite in Supravalvular Aortic Stenosis
Elite in Supravalvular Aortic Stenosis
Beijing, CN 

Lizhi Lv practices in Beijing, China. Lv is rated as an Elite expert by MediFind in the treatment of Supravalvular Aortic Stenosis. Their top areas of expertise are Supravalvular Aortic Stenosis, Pulmonary Supravalvular Stenosis, Aortic Valve Stenosis, and Aortic Regurgitation.

 
 
 
 
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Elite in Supravalvular Aortic Stenosis
Elite in Supravalvular Aortic Stenosis
Foggia, IT 

Giuseppe Merla practices in Foggia, Italy. Mr. Merla is rated as an Elite expert by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Kabuki Syndrome, Williams Syndrome, Supravalvular Aortic Stenosis, and Pulmonary Supravalvular Stenosis.

What are the latest Supravalvular Aortic Stenosis Clinical Trials?
Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank

Objective: 1. To collect historical information and to bank DNA, cells, and tissue from individuals with genetic alterations in the WS/ELN gene region, those with an SVAS -like phenotype and unaffected family members/controls to facilitate future research into the many phenotypes seen in these individuals. 2. Currently, we plan to use the collected samples to identify genetic and environmental factors that c...

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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.

Who are the sources who wrote this article ?

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