ORPHA:3400
Aorto-ventricular tunnel
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A congenital, extracardiac channel which connects the ascending aorta above the sinotubular junction to the cavity of the left, or (less commonly) right ventricle.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Aorto-ventricular tunnel | |
| fr | Tunnel aorto-ventriculaire | |
| de | Aorto-ventrikulärer Tunnel | |
| es | Túnel ventrículo izquierdo-aorta | |
| it | Tunnel aorto-ventricolare | |
| nl | Aortoventriculaire tunnel | |
| pt | Túnel aorta-ventrículo | |
| pl | Tunel aortalno-komorowy | |
| cs | Aortoventrikulární tunel | |
| uk | Аорто-лівошлуночковий тунель | |
| zh | 主动脉-心室隧道 | |
| tr | Aorto-ventriküler tünel |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q20.8 | NTBT | attributed | validated |
| ICD-11 | LA8A.Y | NTBT | index | validated |
| MONDO | 0018082 | E | validated | |
| MeSH | D000082903 | E | validated | |
| UMLS | C4023262 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:98725Ascending aorta anomaly
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare circulatory system diseases
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 130 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
6
HPO phenotypes
8 annotations · validated 2016-07-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011627 | Aorto-ventricular tunnel | |
| Very frequent (99-80%) | ||
| HP:0001714 | Ventricular hypertrophy | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0002616 | Aortic root aneurysm | |
| HP:0001635 | Congestive heart failure | |
| Occasional (29-5%) | ||
| HP:0030148 | Heart murmur | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17922908[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3400
- This record as JSON: /data/d/3400.json