Supravalvular Aortic Stenosis
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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?
Elite in Supravalvular Aortic Stenosis
Pediatric Cardiology
Elite in Supravalvular Aortic Stenosis
Pediatric Cardiology

St. Louis Children's Hospital

1 Childrens Pl, 
Saint Louis,, MO 
Languages Spoken:
English

Mark Levin is a Pediatric Cardiologist in Saint Louis,, Missouri. Dr. Levin is rated as an Elite provider by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Williams Syndrome, Supravalvular Aortic Stenosis, Pulmonary Supravalvular Stenosis, and Cantu Syndrome.

Elite in Supravalvular Aortic Stenosis
Elite in Supravalvular Aortic Stenosis
No.2 Anzhen Street, Chaoyang District, 
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 Arrhythmogenic Right Ventricular Cardiomyopathy.

 
 
 
 
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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 Chromosome 4q Duplication.

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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Coordination of Rare Diseases at Sanford

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

Who are the sources who wrote this article ?

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