Uhl anomaly
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Uhl anomaly is characterized by an almost complete absence of the myocardium in the right ventricle resulting in a thin walled nonfunctional right ventricle manifesting with cardiac arrhythmias and right ventricular failure. Cases of partial absence of right ventricular myocardium which remains asymptomatic or mildly symptomatic until adulthood have also been reported. Patients presenting with complete Uhl anomaly should be considered for cardiac transplantation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Uhl anomaly | |
| fr | Anomalie d'Uhl | |
| de | Uhl-Anomalie | |
| es | Anomalía de Uhl | |
| it | Anomalia di Uhl | |
| nl | Anomalie van Uhl | |
| pt | Anomalia Uhl | |
| pl | Anomalia Uhla | |
| cs | Uhlova anomálie | Cor pseudotriloculare |
| uk | Аномалія Уль | |
| zh | Uhl畸形 | |
| tr | Uhl anomalisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 107970 | NTBT | validated | |
| ICD-10 | Q24.8 | NTBT | inclusion | validated |
| ICD-11 | LA88.Y | NTBT | index | validated |
| MONDO | 0018084 | E | validated | |
| MeSH | C536932 | E | validated | |
| UMLS | C0265857 | E | validated | |
| MedDRA | 10048951 | 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:217678Unclassified cardiomyopathy
rare cardiac diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 84 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Worldwide | Value and class | Not yet 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.
HPO phenotypes
16 annotations · validated 2025-04-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031316 | Abnormal ventricular myocardium morphology | |
| Frequent (79-30%) | ||
| HP:0001640 | Cardiomegaly | |
| HP:0001635 | Congestive heart failure | |
| HP:0001698 | Pericardial effusion | |
| HP:0034330 | Regional right ventricular hypokinesis | |
| HP:0033138 | Right atrial thrombus | |
| HP:6000667 | Right ventricular aneurysm | |
| HP:0001708 | Right ventricular failure | |
| HP:0005180 | Tricuspid regurgitation | |
| Occasional (29-5%) | ||
| HP:0011675 | Arrhythmia | |
| HP:0001789 | Hydrops fetalis | |
| HP:0002202 | Pleural effusion | |
| HP:0010882 | Pulmonary valve atresia | |
| HP:0001279 | Syncope | |
| HP:0001649 | Tachycardia | |
| Excluded (0%) | ||
| HP:0034364 | Fibrofatty replacement of right ventricular myocardium | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 33750225[PMID]_33117927[PMID]_28032368[PMID]_26929879[PMID]_24784726[PMID]_28191230[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3403
- This record as JSON: /data/d/3403.json