Normal Heart Structure
What is Ebstein’s Anomaly?
Ebstein’s anomaly is a congenital heart defect which will be present in those with the condition from birth. The right sided heart valve (the tricuspid valve) between the right sided upper and lower pumping chambers, is displaced inferiorly towards the apex (inferior part) of the heart. This means that the effective lower chamber (the right ventricle) is reduced in size. The effective right upper chamber (the right atrium) becomes enlarged as part of the right ventricle becomes “atrialised”. The tricuspid valve frequently leaks as well, meaning blood goes backwards from the lower right ventricle to the upper right atrium. This makes the work of the heart less efficient with Ebstein’s anomaly.
With Ebstein’s anomaly there is often an associated atrial septal defect (ASD) which is a hole between the two upper pumping chambers of the heart. This hole allows blue blood to pass into the left atrium, which may cause the child’s oxygen levels (saturations) to be below normal levels.
There is also an association with palpitations due to abnormal heart rhythms including SVT. Patients can also have an abnormal electrical conduction pathway in the heart called Wolf Parkinson White.
Many children will have no symptoms. Those with more severe defects may become breathless, tire more easily, have slower weight gain and be more prone to respiratory infections. Older children may have reduced exercise tolerance. Affected children may appear to have a blue tinge to their lips, tongue and fingernails. They can have reduced oxygen levels (cyanosis). Palpitations can occur.
In the severest cases newborn babies can have breathing difficulties and low oxygen levels early in life, requiring ventilation and medical treatment.
A clinical examination will usually reveal a heart murmur. Oxygen saturations will be measured. An echocardiogram will diagnose the condition. An ECG and a Chest X-ray will also be performed. A MRI may also be performed, more commonly in school age children.
Asymptomatic children are monitored in the outpatient clinic. Those with symptoms may require treatment with medication. Open heart cardiac surgery may be needed, particularly if the leak across the tricuspid valve is severe; although the age for this is variable from birth to adult life. One type of operation is called the cone repair. Milder cases may not require surgery.
Palpitations may also require medical treatment. More severe cases may be considered for radiofrequency ablation (keyhole surgery) of the abnormal electrical pathways in the heart.
Lifelong monitoring by a cardiologist is required. There is a wide variation in severity of symptoms. It is important to note that many children with Ebstein’s anomaly have excellent quality of life, participating fully in school activities.
Dr Naqvi has 20 years’ experience of looking after children with Kawasaki Disease. She is a member of the Pan London Kawasaki Expert Group.
For more information about ASDs please see the following links: