Congenital aortic valve stenosis
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare aortic malformation of variable severity and clinical presentation. Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced exacerbations. Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital aortic valve stenosis | |
| fr | Sténose aortique valvulaire congénitale | |
| de | Aortenklappenstenose, kongenitale | Valvuläre kongenitale Aortenstenose |
| es | Estenosis aórtica valvular del niño | |
| it | Stenosi congenita della valvola aortica | |
| nl | Congenitale aortaklepstenose | |
| pt | Estenose da válvula aórtica congénita | |
| pl | Wrodzone zwężenie zastawki aorty | |
| cs | Vrozená stenóza aortální chlopně | |
| uk | Вроджений стеноз аортального клапана | |
| zh | 先天性主动脉瓣狭窄 | |
| tr | Doğumsal aort kapak stenozu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.0 | E | specific | validated |
| ICD-11 | LA8A.20 | E | specific | validated |
| MONDO | 0017735 | E | validated | |
| UMLS | C0152417 | E | validated | |
| MedDRA | 10010371 | 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:98725Ascending aorta anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
17 annotations · validated 2017-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001650 | Aortic valve stenosis | |
| Very frequent (99-80%) | ||
| HP:0002875 | Exertional dyspnea | |
| HP:0030148 | Heart murmur | |
| Frequent (79-30%) | ||
| HP:0005135 | Abnormal T-wave | |
| HP:0010883 | Aortic valve atresia | |
| HP:0004380 | Aortic valve calcification | |
| HP:0005176 | Dysplastic aortic valve | |
| HP:0025075 | Increased QRS voltage | |
| HP:0001712 | Left ventricular hypertrophy | |
| Occasional (29-5%) | ||
| HP:0005162 | Abnormal left ventricular function | |
| HP:0030850 | Abnormal pulse pressure | |
| HP:0001681 | Angina pectoris | |
| HP:0001706 | Endocardial fibroelastosis | |
| HP:0100584 | Endocarditis | |
| HP:0012664 | Reduced left ventricular ejection fraction | |
| Very rare (<4-1%) | ||
| HP:0001645 | Sudden cardiac death | |
| HP:0012727 | Thoracic aortic aneurysm | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 5659398[PMID]_3627218[PMID]_17382664[PMID]_20643258[PMID]_21109119[PMID]_5104978[PMID]_568478[PMID]_7378217[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3093
- This record as JSON: /data/d/3093.json