Ebstein anomaly
Findings
No curated finding names Ebstein anomaly yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ebstein's malformation is a rare congenital cardiac anomaly characterized by rotational displacement 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.
Definition from the Mondo Disease Ontology (MONDO:0009144), read 2026-09-29. CC BY 4.0.
Features
27 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Atrial septal defectHPOHP:0001631
- Very frequent (80% to 99% of cases)
- Ebstein anomaly of the tricuspid valveHPO · MondoHP:0010316
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Imperforate tricuspid valveHPOHP:0011575
- Very frequent (80% to 99% of cases)
- Premature birthHPOHP:0001622
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Abnormal cardiac septum morphologyHPOHP:0001671
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Atrial fibrillationHPOHP:0005110
- Frequent (30% to 79% of cases)
- Chest painHPOHP:0100749
- Frequent (30% to 79% of cases)
- Complete right bundle branch blockHPOHP:0011712
- Frequent (30% to 79% of cases)
Show the remaining 15
- CyanosisHPOHP:0000961
- Frequent (30% to 79% of cases)
- Holosystolic murmurHPOHP:0031667
- Frequent (30% to 79% of cases)
- PalpitationsHPOHP:0001962
- Frequent (30% to 79% of cases)
- Patent ductus arteriosusHPOHP:0001643
- Frequent (30% to 79% of cases)
- Tricuspid regurgitationHPOHP:0005180
- Frequent (30% to 79% of cases)
- Abnormal endocardium morphologyHPOHP:0004306
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MYH7HGNC:7577
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Ebstein anomaly
- Also called
- Ebstein anomaly (disease)Ebstein anomaly of the tricuspid valveEbstein's anomalyEbstein's anomaly (disorder) [ambiguous]Ebstein's anomaly of tricuspid valve