ORPHA:3426
Double outlet right ventricle
Synonyms: DORV
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare cono-truncal anomaly in which both the aorta and pulmonary artery originate, either entirely or predominantly, from the morphologic right ventricle.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Double outlet right ventricle | DORV |
| fr | Ventricule droit à double issue | = en |
| de | Doppelausstromventrikel, rechter | = en |
| es | Doble salida ventricular derecha | |
| it | Ventricolo destro a doppia uscita | = en |
| nl | Rechterventrikel met dubbele uitstroom | DORV · Double outlet rechterventrikel |
| pt | Ventrículo direito com dupla saída | |
| pl | Dwuujściowa prawa komora | = en |
| cs | Dvojvýtoková pravá komora | = en |
| uk | Подвійне відходження великих артерій від правого шлуночка | = en |
| zh | 右室双出口 | = en |
| tr | Çift çıkışlı sağ ventrikül | = en |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217095 | NTBT | validated | |
| ICD-10 | Q20.1 | E | specific | validated |
| ICD-11 | LA85.2 | E | specific | validated |
| MONDO | 0018089 | E | validated | |
| MeSH | D004310 | E | validated | |
| UMLS | C0013069 | E | validated | |
| GARD | 1908 | E | validated | |
| MedDRA | 10013611 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:2445Conotruncal heart malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:271853Genetic cardiac anomaly
rare genetic diseases
Children (5):
- ORPHA:423712Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
- ORPHA:99046Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
- ORPHA:423693Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
- ORPHA:99043Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
- ORPHA:99045Double outlet right ventricle with subpulmonary ventricular septal defect
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Germany | Value and class | Validated | 22644696[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | 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.
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HPO phenotypes
28 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0001719 | Double outlet right ventricle | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0000961 | Cyanosis | |
| Frequent (79-30%) | ||
| HP:3000022 | Abnormality of cartilage of external ear | |
| HP:0000175 | Cleft palate | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0030148 | Heart murmur | |
| HP:0000316 | Hypertelorism | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000160 | Narrow mouth | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0004322 | Short stature | |
| HP:0000176 | Submucous cleft hard palate | |
| HP:0001649 | Tachycardia | |
| HP:0002789 | Tachypnea | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0010515 | Aplasia/Hypoplasia of the thymus | |
| HP:0001680 | Coarctation of aorta | |
| HP:0030853 | Heterotaxy | |
| HP:0002901 | Hypocalcemia | |
| HP:0000829 | Hypoparathyroidism | |
| HP:0002566 | Intestinal malrotation | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001660 | Truncus arteriosus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 23427188[PMID]_25195019[PMID]_3341225[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3426
- This record as JSON: /data/d/3426.json