Congenital aortopulmonary window
Synonyms: Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare congenital non-syndromic heart malformation characterized by a communication between the ascending aorta and the pulmonary trunk in the presence of two normally formed semilunar valves. It may be an isolated finding or occur in association with other anomalies. Severe clinical manifestations, such as congestive heart failure or pulmonary hypertension, typically develop in early life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital aortopulmonary window | Congenital aortopulmonary artery fistula · Congenital aortopulmonary septal defect |
| fr | Fenêtre aorto-pulmonaire congénitale | Fistule aorte-artère pulmonaire congénitale |
| de | Aorto-pulmonale Fenster, kongenitales | Arterienfistel, aorto-pulmonale kongenitale · Septumdefekt, aorto-pulmonaler kongenitaler |
| es | Ventana aortopulmonar congénita | Defecto septal aortopulmonar congénito · Fístula aorta-arteria pulmonar congénita |
| it | Finestra aorto-polmonare congenita | Difetto congenito del setto aorto-polmonare · Finestra aortica · Fistola aorta-arteria polmonare congenita |
| nl | Congenitaal aortopulmonaal venster | Congenitaal aortopulmonaal septumdefect · Congenitale aortopulmonale fistel |
| pt | Janela aorto-pulmonar congénita | Defeito do septo aorto-pulmonar congénito · Fístula aorta-artéria pulmonar congénita |
| pl | Wrodzone okienko aortalno-płucne | Okienko aortalne · Wrodzona przetoka tętnicza aortalno-płucna · Wrodzony ubytek przegrody aortalno-płucnej |
| cs | Vrozené aortopulmonální okno | Vrozený defekt aortopulmonálního septa · Vrozená aortopulmonální píštěl |
| uk | Аорто-пульмональне вікно | Вроджена нориця аорто-легеневої артерії · Вроджений дефект аорто-легеневої перегородки |
| zh | 先天性主肺动脉窗 | 先天性主肺动脉瘘 |
| tr | Doğumsal aortopulmoner pencere | Doğumsal aortopulmoner septal defekt · Doğumsal aortopulmoner arter fistülü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q21.4 | E | specific | validated |
| ICD-11 | LA8B.0 | E | specific | validated |
| MONDO | 0016077 | E | validated | |
| MeSH | C537782 | E | validated | |
| UMLS | C0003516 | E | validated | |
| GARD | 738 | 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:2445Conotruncal heart malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | Worldwide | Value and class | Validated | 32502030[PMID]_28723032[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | 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/2037
- This record as JSON: /data/d/2037.json