ORPHA:1880
Ebstein malformation of the tricuspid valve
Synonyms: Ebstein anomaly of the tricuspid valve
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- All ages
- Status
- active
A rare congenital cardiac anomaly characterized by downward (apical) displacement of the functional annulus, due to incomplete delamination of the septal and inferior leaflets of the tricuspid valve such that they are hinged within the right ventricle, rather than as expected at the atrioventricular junction. The anterosuperior leaflet is often abnormal (redundancy, fenestrations, tethering with abnormal subvalvar apparatus). The atrioventricular junction and the ''atrialized'' portion of the right ventricle are dilated, with variable degrees of thinning of the right ventricular wall.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ebstein malformation of the tricuspid valve | Ebstein anomaly of the tricuspid valve |
| fr | Malformation d'Ebstein de la valve tricuspide | Anomalie d'Ebstein de la valve tricuspide |
| de | Ebstein-Anomalie der Trikuspidalklappe | |
| es | Malformación de Ebstein de la válvula tricúspide | Anomalía de Ebstein de la válvula tricúspide |
| it | Malformazione di Ebstein della valvola tricuspide | Anomalia della valvola tricuspide di Ebstein |
| nl | Ebstein-malformatie van tricuspidalisklep | Ebstein-anomalie van tricuspidalisklep |
| pt | Anomalia Ebstein da válvula tricúspida | |
| pl | Malformacja Ebsteina | Anomalia Ebsteina zastawki trójdzielnej |
| cs | Ebsteinova malformace | Ebsteinova anomálie trikuspidální chlopně |
| uk | Вада тристулкового клапана Ебштейна | Аномалія тристулкового клапана Ебштейна |
| zh | 埃布斯坦畸形 | 三尖瓣Ebstein畸形 |
| tr | Ebstein malformasyonu | Triküspit kapağın Ebstein anomalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224700 | E | validated | |
| ICD-10 | Q22.5 | E | specific | validated |
| ICD-11 | LA87.03 | E | specific | validated |
| MONDO | 0009144 | E | validated | |
| MeSH | D004437 | E | validated | |
| UMLS | C0013481 | E | validated | |
| GARD | 6313 | E | validated | |
| MedDRA | 10014075 | 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 (2):
- ORPHA:98721Congenital tricuspid malformation
rare developmental anomalies during embryogenesis; rare cardiac malformations - ORPHA:477805Genetic cardiac malformation
rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYH7 | Disease-causing germline mutation(s) in | Assessed | HGNC:7577 | ENSG00000092054 | 160760 | 14q11.2 | myosin heavy chain 7 | 23956225[PMID] |
5
Prevalence and incidence
22 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.25 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 7.8 / 100 000 | France | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 19.5 / 100 000 | Austria | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2008[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.1 / 100 000 | Belgium | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2007[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 16.5 / 100 000 | Croatia | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 18.2 / 100 000 | Denmark | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 11.6 / 100 000 | Germany | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.1 / 100 000 | Hungary | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.6 / 100 000 | Ireland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.1 / 100 000 | Italy | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 24.1 / 100 000 | Malta | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2009[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 5.7 / 100 000 | Netherlands | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Poland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.6 / 100 000 | Spain | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-5 / 10 000 | 27.2 / 100 000 | Switzerland | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2006[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | United Kingdom | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 6.5 / 100 000 | Ukraine | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 4.7 / 100 000 | Taiwan, Province of China | Value and class | Validated | 20138303[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6 / 100 000 | United States | Value and class | Not yet validated | 21465650[PMID]_19818453[PMID]_18657826[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 6.6 / 100 000 | Specific population | Value and class | Validated | 15535817[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 9.8 / 100 000 | Norway | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2010[OTHER] |
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
27 annotations · validated 2024-10-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0001631 | Atrial septal defect | |
| HP:0010316 | Ebstein anomaly of the tricuspid valve | |
| HP:0012378 | Fatigue | |
| HP:0011575 | Imperforate tricuspid valve | |
| HP:0001622 | Premature birth | |
| HP:0002093 | Respiratory insufficiency | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0011675 | Arrhythmia | |
| HP:0005110 | Atrial fibrillation | |
| HP:0100749 | Chest pain | |
| HP:0000961 | Cyanosis | |
| HP:0031667 | Holosystolic murmur | |
| HP:0001962 | Palpitations | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0011712 | Right bundle branch block | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0004306 | Abnormality of the endocardium | |
| HP:0004420 | Arterial thrombosis | |
| HP:0002637 | Cerebral ischemia | |
| HP:0001635 | Congestive heart failure | |
| HP:0002094 | Dyspnea | |
| HP:0012418 | Hypoxemia | |
| HP:0010741 | Pedal edema | |
| HP:0001645 | Sudden cardiac death | |
| Very rare (<4-1%) | ||
| HP:0001658 | Myocardial infarction | |
| HP:0001297 | Stroke | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 30521245[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1880
- This record as JSON: /data/d/1880.json