supravalvular aortic stenosis
Findings
No curated finding names supravalvular aortic stenosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
SupraValvar 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.
Definition from the Mondo Disease Ontology (MONDO:0008504), read 2026-09-29. CC BY 4.0.
Features
7 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ArrhythmiaHPOHP:0011675
- Very frequent (80% to 99% of cases)
- Supravalvular aortic stenosisHPOHP:0004381
- Very frequent (80% to 99% of cases)
- Angina pectorisHPOHP:0001681
- Frequent (30% to 79% of cases)
- DyspneaHPOHP:0002094
- Frequent (30% to 79% of cases)
- SyncopeHPOHP:0001279
- Frequent (30% to 79% of cases)
- Systolic heart murmurHPOHP:0031664
- Frequent (30% to 79% of cases)
- HypertensionHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELNHGNC:3327
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: supravalvular aortic stenosis
- Also called
- supravalvar aortic stenosissupravalvular aortic stenosis (disease)SVAS