Supravalvular aortic stenosis
Synonyms: SVAS
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare aortic malformation characterized by the narrowing of the aorta lumen (close to its origin) associated or not with stenosis of 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 (left ventricle in case of aorta involvement, right ventricle in case of pulmonary artery involvement).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Supravalvular aortic stenosis | SVAS |
| fr | Sténose aortique supravalvulaire | Rétrécissement aortique supravalvulaire · SVAS |
| de | Aortenstenose, supravalvuläre | = en |
| es | Estenosis supravalvular aórtica | = en |
| it | Stenosi sopravalvolare dell'aorta | = en |
| nl | Supravalvulaire aortastenose | = en |
| pt | Estenose aórtica supra-vavulvar | = en |
| pl | Nadzastawkowe zwężenie aorty | = en |
| cs | Supravalvulární stenóza aorty | = en |
| uk | Надклапанний аортальний стеноз | = en |
| zh | 主动脉瓣上狭窄 | = en |
| tr | Supravalvular aort darlığı | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185500 | E | validated | |
| ICD-10 | Q25.3 | NTBT | inclusion | validated |
| ICD-11 | LA8A.3 | E | specific | validated |
| MONDO | 0008504 | E | validated | |
| MeSH | D021921 | E | validated | |
| UMLS | C0003499 | E | validated | |
| GARD | 743 | E | validated | |
| MedDRA | 10042598 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98718Aortic malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases - ORPHA:271853Genetic cardiac anomaly
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ELN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3327 | ENSG00000049540 | 130160 | 7q11.23 | elastin | 10942104[PMID]_19844261[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 13.3 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
7 annotations · validated 2023-08-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0004381 | Supravalvular aortic stenosis | |
| Frequent (79-30%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0002094 | Dyspnea | |
| HP:0001279 | Syncope | |
| HP:0031664 | Systolic heart murmur | |
| Occasional (29-5%) | ||
| HP:0000822 | Hypertension | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23250899[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3193
- This record as JSON: /data/d/3193.json