Congenital total pulmonary venous return anomaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A form of congenital pulmonary venous return where all of the pulmonary veins drain into the right atrium or one of its tributaries, instead of the left atrium, leading to various manifestations such as fatigue, exertional dyspnea, pulmonary arterial hypertension, cyanosis and progressive congestive heart failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital total pulmonary venous return anomaly | |
| fr | Anomalie congénitale totale du retour veineux pulmonaire | |
| de | Lungenvenenfehlmündung, kongenitale totale | |
| es | Anomalía congénita del retorno venoso pulmonar total | |
| it | Ritorno venoso anomalo polmonare o totale congenito | |
| nl | Congenitale totale pulmonale veneuze terugstroomanomalie | |
| pt | Anomalia do retorno venoso pulmonar congénita total | |
| pl | Wrodzony całkowity nieprawidłowy powrót żył płucnych | |
| cs | Vrozený úplný anomální návrat plicních žil | |
| uk | Тотальний аномальний дренаж легеневих вен | |
| zh | 先天性完全肺静脉回流异常 | |
| tr | Doğumsal total pulmoner venöz dönüş anomalisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 106700 | E | validated | |
| ICD-10 | Q26.2 | E | specific | validated |
| ICD-11 | LA86.20 | E | specific | validated |
| MONDO | 0007130 | E | validated | |
| UMLS | C4551903 | 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:3090Congenital pulmonary venous return 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 | 8 / 100 000 | United States | Value and class | Validated | 18657826[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | Worldwide | Value and class | Validated | 12084585[PMID] |
| Point prevalence | 1-9 / 100 000 | 9 / 100 000 | Worldwide | Value and class | Validated | 12084585[PMID]_ORPHANET |
| Point prevalence | 1-9 / 100 000 | 8 / 100 000 | United States | Value and class | Validated | 18657826[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
40 annotations · validated 2019-06-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002098 | Respiratory distress | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0011539 | Atrial situs ambiguous | |
| HP:0000961 | Cyanosis | |
| HP:0002875 | Exertional dyspnea | |
| HP:0012378 | Fatigue | |
| HP:0012763 | Paroxysmal dyspnea | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0011719 | Supracardiac total anomalous pulmonary venous connection | |
| HP:0001649 | Tachycardia | |
| Occasional (29-5%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0011720 | Cardiac total anomalous pulmonary venous connection | |
| HP:0001640 | Cardiomegaly | |
| HP:0001651 | Dextrocardia | |
| HP:0001719 | Double outlet right ventricle | |
| HP:0002240 | Hepatomegaly | |
| HP:0030853 | Heterotaxy | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0005253 | Increased anterioposterior diameter of thorax | |
| HP:0011721 | Infracardiac total anomalous pulmonary venous connection | |
| HP:0030918 | Low 1-minute APGAR score | |
| HP:0030919 | Low 5-minute APGAR score | |
| HP:0009805 | Low-output congestive heart failure | |
| HP:0011722 | Mixed total anomalous pulmonary venous connection | |
| HP:0000980 | Pallor | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002033 | Poor suck | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0001708 | Right ventricular failure | |
| HP:0001750 | Single ventricle | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0001680 | Coarctation of aorta | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0011560 | Mitral atresia | |
| HP:0001653 | Mitral regurgitation | |
| HP:0001669 | Transposition of the great arteries | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 29796693[PMID]_20392458[PMID]_23641468[PMID]_30841831[PMID]_5097138[PMID]_14426379[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99125
- This record as JSON: /data/d/99125.json