Uhl anomaly
Findings
No curated finding names Uhl anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0018084), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal ventricular myocardium morphologyHPOHP:0031316
- Very frequent (80% to 99% of cases)
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- Pericardial effusionHPOHP:0001698
- Frequent (30% to 79% of cases)
- Regional right ventricular hypokinesisHPOHP:0034330
- Frequent (30% to 79% of cases)
- Right atrial thrombusHPOHP:0033138
- Frequent (30% to 79% of cases)
- Right ventricular aneurysm
Show the remaining 3
- Pulmonary valve atresiaHPOHP:0010882
- Occasional (5% to 29% of cases)
- SyncopeHPOHP:0001279
- Occasional (5% to 29% of cases)
- TachycardiaHPOHP:0001649
- Occasional (5% to 29% of cases)
Where it sits
- A kind of