Supravalvular Aortic Stenosis Overview

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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?
Dr. James M. Hammel
Thoracic Surgery
Dr. James M. Hammel
Thoracic Surgery
25 Michigan St Ne Ste 4200, 
Grand Rapids, MI 
 (58.0 mi)
616-267-9150
Languages Spoken:
English
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Accepting New Patients

James Hammel is a Thoracic Surgeon in Grand Rapids, Michigan. Dr. Hammel and is rated as an Experienced provider by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Pulmonary Valve Stenosis, Hypoplastic Left Heart Syndrome (HLHS), Congenital Heart Disease (CHD), Mitral Atresia, and Heart Transplant. Dr. Hammel is currently accepting new patients.

Dr. William R. Felten
Interventional Cardiology | Cardiology
Dr. William R. Felten
Interventional Cardiology | Cardiology

Mymichigan Medical Center Midland

4851 E Pickard St, 
Mt Pleasant, MI 
 (16.8 mi)
989-837-9280
Languages Spoken:
English
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Accepting New Patients

William Felten is an Interventional Cardiologist and a Cardiologist in Mt Pleasant, Michigan. Dr. Felten and is rated as an Experienced provider by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Heart Attack, Angina, Metabolic Syndrome, Coronary Heart Disease, and Heart Bypass Surgery. Dr. Felten is currently accepting new patients.

 
 
 
 
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Dr. Robert N. Jones
Thoracic Surgery
Dr. Robert N. Jones
Thoracic Surgery
4201 Campus Ridge Dr Ste 3100, 
Midland, MI 
 (21.4 mi)
989-488-5410
Languages Spoken:
English

Robert Jones is a Thoracic Surgeon in Midland, Michigan. Dr. Jones and is rated as an Experienced provider by MediFind in the treatment of Supravalvular Aortic Stenosis. His top areas of expertise are Mitral Valve Regurgitation, Thoracic Aortic Aneurysm, Pleuropulmonary Blastoma, Heart Bypass Surgery, and Heart Valve Repair.

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What are the latest Supravalvular Aortic Stenosis Clinical Trials?
Impact of Elastin Mediated Vascular Stiffness on End Organs
Impact of Elastin Mediated Vascular Stiffness on End Organs
Enrollment Status: Recruiting
Publish Date: January 28, 2025

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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Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
Williams Syndrome (WS) and Supravalvar Aortic Stenosis (SVAS) DNA and Tissue Bank
Enrollment Status: Recruiting
Publish Date: January 03, 2025

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