Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.
The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Inheritance Pattern
Autosomal dominant
Other Names
Aortic stenosis, supravalvular; Stenosis, aortic supravalvular; Stenosis, supravalvular aortic; Supravalvar aortic stenosis; Supravalvular stenosis, aortic; SVAS
Related Genetics Topics
- ELN — MedlinePlus Genetics
Identifiers
- GTR: C0003499
- ICD-10-CM: Q25.3
- MeSH: D021921
- OMIM: 185500
- SNOMED CT: 268185002
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
