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Supravalvular aortic stenosis
rareSupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.
- Identifiers
- MONDO:0008504 OMIM:185500Orphanet:3193
- Causal genes
- ELN
- Also known as
- aortic supravalvular stenosis · supravalvar aortic stenosis · supravalvular aortic stenosis (disease) · SVAS
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