Pulmonary atresia-intact ventricular septum syndrome
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare cardiac malformation characterized by congenital either membranous or long segment muscular atresia of the right ventricular outflow tract in the absence of communication at the level of ventricles. The spectrum ranges from simple membranous pulmonary atresia with normal-appearing right ventricle (RV) to hypoplastic RV with abnormal connections between the RV and coronary arteries. Major presenting symptoms are cyanosis and desaturation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pulmonary atresia-intact ventricular septum syndrome | |
| fr | Syndrome d'atrésie pulmonaire-septum ventriculaire intact | |
| de | Pulmonalatresie mit intaktem Ventrikelseptum | PA-IVS |
| es | Síndrome de atresia pulmonar-septo ventricular íntegro | |
| it | Atresia polmonare - setto ventricolare integro | |
| nl | Pulmonale atresie - intact ventrikelseptum-syndroom | |
| pt | Síndrome de atresia pulmonar-septo ventricular íntegro | |
| pl | Atrezja tętnicy płucnej bez ubytku przegrody międzykomorowej | |
| cs | Syndrom zahrnující pulmonální atrézii a intaktní komorové septum | |
| uk | Синдром атрезії легеневої перегородки з інтактною міжшлуночковою перегородкою | |
| zh | 肺动脉瓣闭锁-室间隔完整综合征 | |
| tr | Pulmoner atrezi-intakt ventriküler septum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 265150 | E | validated | |
| ICD-10 | Q22.6 | NTBT | attributed | validated |
| ICD-11 | LA8A.10 | E | specific | validated |
| MONDO | 0009931 | E | validated | |
| MeSH | C562832 | E | validated | |
| UMLS | C0344975 | E | validated | |
| GARD | 4600 | 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:98723Hypoplastic right heart syndrome
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
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4.5 / 100 000 | United Kingdom | Value and class | Validated | 9714114[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4.2 / 100 000 | Sweden | Value and class | Validated | 11515692[PMID] |
| Point prevalence | Unknown | — | United Kingdom | Class only | Validated | 9714114[PMID]_ORPHANET |
| Point prevalence | Unknown | — | Sweden | Class only | Validated | 11515692[PMID]_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
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0009800 | Maternal diabetes | |
| HP:0004935 | Pulmonary artery atresia | |
| Frequent (79-30%) | ||
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001622 | Premature birth | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1208
- This record as JSON: /data/d/1208.json