Congenital tricuspid valve dysplasia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare congenital tricuspid malformation characterized by irregular thickening of the leaflet tissue by myxoid connective tissue in a normally delaminated tricuspid valve, without septal leaflet displacement, and without an atrialized right ventricle. The chordae tendineae may be short or absent. The affected valve is stenotic and/or incompetent. Clinically, most patients are asymptomatic and are diagnosed in the context of the evaluation of a murmur.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital tricuspid valve dysplasia | |
| fr | Dysplasie congénitale de la valve tricuspide | |
| de | Trikuspidalklappendysplasie, kongenitale | |
| es | Displasia congénita de la válvula tricúspide | |
| it | Displasia congenita della valvola tricuspide | |
| nl | Congenitale dysplasie van tricuspidalisklep | |
| pt | Displasia congénita da válvula tricúspida | |
| pl | Wrodzona dysplazja zastawki trójdzielnej | |
| cs | Vrozená dysplázie trikuspidální/trojcípé chlopně | |
| uk | Вроджена дисплазія тристулкового клапана | |
| zh | 先天性三尖瓣发育不良 | |
| tr | Doğumsal triküspit kapak displazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q22.8 | NTBT | attributed | validated |
| ICD-11 | LA87.02 | E | specific | validated |
| MONDO | 0035314 | E | validated | |
| UMLS | C4255215 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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.
HPO phenotypes
20 annotations · validated 2021-06-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031441 | Abnormal tricuspid valve annulus morphology | |
| HP:0031443 | Abnormal tricuspid valve leaflet morphology | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0001640 | Cardiomegaly | |
| HP:0000961 | Cyanosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0012418 | Hypoxemia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001622 | Premature birth | |
| HP:0002878 | Respiratory failure | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001518 | Small for gestational age | |
| HP:0031664 | Systolic heart murmur | |
| HP:0002789 | Tachypnea | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0001655 | Patent foramen ovale | |
| HP:0001698 | Pericardial effusion | |
| HP:0030718 | Right atrial enlargement | |
| HP:0001704 | Tricuspid valve prolapse | |
Annotation source: 16273410[PMID]_33076749[PMID]_9007786[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/555874
- This record as JSON: /data/d/555874.json