Pulmonary atresia with ventricular septal defect
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
Pulmonary atresia with ventricular septal defect (PA-VSD) is a rare cyanotic congenital heart malformation characterized by underdevelopment of the right ventricular outflow tract and atresia of the pulmonary valve, ventricular septal defect (VSD) and pulmonary collateral vessels. Clinical features depend on the anatomic variability of the lesion and patients may be minimally symptomatic, severely cyanotic or may develop congestive heart failure. PA-VSD may represent a severe form of Tetralogy of Fallot.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary atresia with ventricular septal defect | |
| fr | Syndrome d'atrésie pulmonaire-communication interventriculaire | |
| de | Pulmonalatresie mit Ventrikelseptumdefekt | |
| es | Atresia pulmonar con comunicación interventricular | |
| it | Atresia polmonare - difetto del setto interventricolare | |
| nl | Pulmonale atresie met ventrikelseptumdefect | |
| pt | Atresia pulmonar com defeito do septo ventricular | |
| pl | Atrezja tętnicy płucnej z ubytkiem przegrody międzykomorowej | |
| cs | Atrézie plicnice s defektem komorového septa | |
| uk | Атрезія легеневої артерії з дефектом міжшлуночкової перетинки | |
| zh | 肺动脉闭锁合并室间隔缺损 | |
| tr | Ventriküler septal defektli pulmoner atrezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 178370 | E | validated | |
| ICD-10 | Q25.5 | NTBT | attributed | validated |
| ICD-11 | LA88.21 | E | specific | validated |
| MONDO | 0008343 | E | validated | |
| MeSH | C562833 | E | validated | |
| UMLS | C0344976 | E | validated | |
| GARD | 4588 | 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 | 1-5 / 10 000 | 30 / 100 000 | Worldwide | Value and class | Validated | 32502030[PMID]_ORPHANET |
| 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/1207
- This record as JSON: /data/d/1207.json