Ebstein’s anomaly is a congenital heart condition where the tricuspid valve is set lower in the right side of the heart (towards the apex), causing a bigger right atrium and a smaller right ventricle. This leads to poor flow from the right atrium to the right ventricle, and therefore poor flow to the pulmonary vessels. It is often associated with a right to left shunt across the atria via an atrial septal defect. When this happens blood bypasses the lungs, leading to cyanosis. It is also associated with Wolff-Parkinson-White syndrome.
Typical presenting features include:
- Evidence of heart failure (e.g. oedema)
- Gallop rhythm heard on auscultation characterised by the addition of the third and fourth heart sounds
- Shortness of breath and tachypnoea
- Poor feeding
- Collapse or cardiac arrest
Symptoms in patients with an associated atrial septal defect often present a few days after birth, when the ductus arteriosus closes. Where there is a right to left shunt across an atrial septal defect the ductus arteriosus allows blood to flow from the aorta into the pulmonary vessels to get oxygenated. This minimises the cyanosis. When the duct closes the patient becomes cyanotic and symptomatic.
Echocardiogram is the investigation of choice for confirming the diagnosis and assessing the severity.
Medical management includes treating arrhythmias and heart failure. Prophylactic antibiotics may be used to prevent infective endocarditis. Definitive management is by surgical correction of the underlying defect.
Last updated July 2019