Tricuspid atresia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital heart malformation characterized by absence of the tricuspid valuvar annulus (absent right atrioventricular connection/junction) or an imperforate tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular heart). The malformation is associated with normally related great arteries (70 to 80% of cases) or transposed great vessels, an obligatory interatrial connection that is crucial for survival (patent oval foramen or atrial septal defect ostium secundum type), ventricular septal defect (VSD), pulmonary outflow obstruction (pulmonary atresia, stenosis or hypoplasia), aortic coarctation and/or aortic arch interruption.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tricuspid atresia | |
| fr | Atrésie tricuspide | |
| de | Trikuspidalatresie | |
| es | Atresia tricuspídea | |
| it | Atresia della tricuspide | |
| nl | Tricuspidalisatresie | |
| pt | Atresia tricúspide | |
| pl | Atrezja zastawki trójdzielnej | |
| cs | Trikuspidální atrézie | |
| uk | Трикуспідальна атрезія | |
| zh | 三尖瓣闭锁 | |
| tr | Triküspit atrezi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605067 | E | validated | |
| ICD-10 | Q22.4 | NTBT | inclusion | validated |
| ICD-11 | LA89.1 | E | specific | validated |
| MONDO | 0011514 | E | validated | |
| MeSH | D018785 | E | validated | |
| UMLS | C0243002 | E | validated | |
| GARD | 5274 | E | validated | |
| MedDRA | 10049767 | 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:98721Congenital tricuspid malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
19 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 5.5625 / 100 000 | Europe | Value and class | Validated | 31270117[PMID] |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.9 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 9 / 100 000 | France | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Germany | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10.5 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Italy | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Netherlands | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3.3 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.5 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.9 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.1 / 100 000 | Portugal | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 12.6 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2011[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5 / 100 000 | United Kingdom | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.7 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.6 / 100 000 | Taiwan, Province of China | Value and class | Validated | 20138303[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 8 / 100 000 | Malta | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | Czech Republic | Value and class | Validated | 31270117[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 3 / 100 000 | Slovakia | Value and class | Validated | 31270117[PMID] |
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
10 annotations · validated 2019-04-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0011662 | Tricuspid atresia | Diagnostic criterion |
| Very frequent (99-80%) | ||
| HP:0000961 | Cyanosis | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0004762 | Hypoplasia of right ventricle | |
| HP:0001655 | Patent foramen ovale | |
| HP:0005301 | Persistent left superior vena cava | |
| HP:0001669 | Transposition of the great arteries | |
| Occasional (29-5%) | ||
| HP:0001680 | Coarctation of aorta | |
| HP:0004935 | Pulmonary artery atresia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 10227411[PMID]_1689815[PMID]_10888889[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1209
- This record as JSON: /data/d/1209.json