Quadricuspid aortic valve
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare congenital aortic malformation characterized by an aortic valve with four cusps instead of the usual three. The cusps can be equal-sized or vary in size. The malformation is an isolated finding in the majority of cases but may also be associated with other cardiac anomalies. The most common complication is aortic regurgitation. Aortic stenosis is infrequently observed. Patients usually become symptomatic in the fifth to sixth decade of life and may present with palpitations, chest pain, dyspnea, fatigue, pedal edema, and syncope. In severe cases, congestive heart failure can be the presenting symptom.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Quadricuspid aortic valve | |
| fr | Valve aortique quadricuspide | Quadricuspidie valvulaire aortique |
| de | Aortenklappe, quadrikuspide | |
| es | Válvula aórtica cuadricúspide | |
| it | Valvola aortica quadricuspide | |
| nl | Quadricuspide aortaklep | Vierslippige aortaklep |
| pt | Válvula aórtica quadricúspida | |
| pl | Czteropłatkowa zastawka aortalna | |
| cs | Kvadrikuspidální/čtyřcípá aortální chlopeň | |
| uk | Чотиристулковий аортальний клапан | |
| zh | 四叶主动脉瓣 | |
| tr | Kuadriküspit aort kapağı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q23.8 | NTBT | attributed | validated |
| ICD-11 | LA8A.2Y | NTBT | attributed | validated |
| MONDO | 0035267 | E | validated | |
| MeSH | D000082902 | E | validated | |
| UMLS | C0345002 | 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 (1):
- ORPHA:98718Aortic malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/542568
- This record as JSON: /data/d/542568.json