Pulmonary valve agenesis
Synonyms: Absent pulmonary valve syndrome · Congenital absence of the pulmonary valve · PVA
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary valve agenesis | Absent pulmonary valve syndrome · Congenital absence of the pulmonary valve · PVA |
| fr | Agénésie des valves pulmonaires | AVP · Absence congénitale des valves pulmonaires |
| de | Pulmonalklappenagenesie | Pulmonalklappe, kongenitales Fehlen der · Syndrom der fehlenden Pulmonalklappe |
| es | Agenesia de válvula pulmonar | Ausencia congénita de válvula pulmonar · Síndrome de válvula pulmonar ausente |
| it | Assenza congenita della valvola polmonare | Agenesia della valvola polmonare (PVA) |
| nl | Agenesie van pulmonalisklep | Afwezige pulmonalisklep-syndroom · Congenitale afwezigheid van pulmonalisklep · PVA |
| pt | Agenesia das valvas pulmonares | |
| pl | Agnezja zastawki płucnej | PVA · Wrodzony brak zastawki płucnej |
| cs | Ageneze pulmonální chlopně | PVA · Vrozená absence pulmonální chlopně |
| uk | Агенезія легеневого клапана | Синдром відсутності легеневого клапана · Вроджена відсутність легеневого клапана · PVA |
| zh | 肺动脉瓣发育不全 | 原发性肺动脉瓣缺如 |
| tr | Pulmoner kapak agenezi | PVA · Pulmoner kapak yokluğu sendromu · Pulmoner kapağın Doğumsal yokluğu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0020064 | E | validated | |
| UMLS | C0265831 | E | validated | |
| GARD | 4597 | 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:2445Conotruncal heart malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:98719Pulmonary artery or pulmonary branch 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/982
- This record as JSON: /data/d/982.json