Overview
Ebstein’s anomaly describes a congenital heart defect where leaflets of the tricuspid valve are displaced downwards towards the apex of the heart. This leads to enlargement of the right atrium and ventricle and this is sometimes referred to as ‘atrialisation’ of the right ventricle.
Associations
Ebstein’s anomaly is associated with:
- Atrial septal defect or a patent foramen ovale (around 80%):
- This can lead to complications such as right-to-left shunting which can cause cyanosis and paradoxical emboli.
- Wolff-Parkinson-White syndrome
Risk Factors
Most cases are sporadic, however, some risk factors include:
- Maternal lithium exposure
- A family history of congenital heart disease
Presentation
Features include:
- Cyanosis: due to right-to-left shunting and/or heart failure
- Shortness of breath and tachypnoea
- Poor feeding
- Features of heart failure: peripheral oedema, hepatomegaly, ascites, large A and V waves in the jugular venous pressure
- Widely split S1 and S2 heart sounds
- S3 and S4 hear sounds may be present
- Tricuspid regurgitation: a pansystolic murmur is heard at the lower left sternal edge
Investigations
Overview
Some investigations include:
- Chest x-ray:
- May show cardiomegaly
- May show a large right atrium
- ECG:
- May show tall and broad P waves due to right atrial enlargement
- May show right bundle-branch block
- Echocardiogram:
- Identifies Ebstein’s anomaly
Management
Overview
Management may involve medical management of heart failure and surgery.
Complications
Overview
Complications include:
- Right heart failure
- Paradoxical emboli
- Arrhythmia and sudden cardiac death
Prognosis
- The prognosis depends on the severity of the anomaly and the development of heart failure
