Ebstein’s Anomaly

What is Ebstein’s anomaly?

Ebstein’s anomaly is a rare congenital heart defect where the tricuspid valve fails to develop properly. Ebstein was a doctor who first named this condition. Anomaly means something which is not usual.

The tricuspid valve is normally situated between the two chambers on the right side of the heart, the right atrium and right ventricle. It normally has 3 flaps also known as leaflets. In Ebstein’s anomaly, the tricuspid valve sits lower than normal in the right ventricle and the leaflets are abnormally formed. This leads to blood leaking backwards from the right ventricle into the right atrium (tricuspid valve regurgitation) and it causes the right atrium to enlarge and not work as it should.

The location of the valve and how poorly it’s formed varies from person to person. Some people have a mildly abnormal valve. Others have a valve that leaks severely.

Ebstein’s anomaly can occur on its own but often patients also have an atrial septal defect, which is a hole between the left and right atria. Ebstein’s anomaly is thought to account for less than 1% of CHDs.

How can Ebstein’s anomaly be spotted?

Ebstein’s anomaly is a hugely variable condition and early detection is vital.

It can be detected at the 20 week anomaly scan or after birth by an echocardiogram.

After birth, if very little blood is getting to the lungs, your child will become very ill as soon as the fetal circulation system (ductus arteriosus) starts to adapt to neonatal circulation. They will start to show signs of heart failure, be sweaty, tired, and look blue (cyanosis). In some severe cases, the baby may have trouble breathing.

If your baby has a milder form of the condition, there may not be any symptoms for some years, other than a heart murmur. A heart murmur may be heard as extra blood leaks back through the abnormal tricuspid valve. How your baby is affected will depend on how much blood is able to get to the lungs.

A child with Ebstein’s anomaly may also have other heart problems including:

• pulmonary valve stenosis or atresia
• atrial septal defect
• ventricular septal defect
• an abnormally fast heart rate called supraventricular tachycardia

How can Ebstein’s anomaly be treated?

The treatment for Ebstein’s anomaly will depend on how severe the condition is. Your cardiologist will discuss the treatment options appropriate for your baby.

If your baby has mild symptoms, he or she will need to be monitored by a paediatric cardiologist, and may never need treatment.

If your baby has poor oxygen levels, meaning that there is not enough blood getting to the lungs, they will need open heart surgery. Different types of surgical procedures can be used to treat Ebstein’s anomaly. These can include a tricuspid valve repair or a tricuspid valve replacement.

General advice & information for the future

Most babies will be much better after treatment. Those who have had surgery to correct the condition are normally well shortly after the operation.

Babies and children with Ebstein’s anomaly (even when surgically treated) will need lifelong followup. This will usually involve repeat tests like echocardiogram, ECG and sometimes cardiac Magnetic Resonance Imaging (MRI) scans. The aim of these check ups is to monitor your child’s heart function so that any future heart problems are diagnosed and treated quickly. 

Your cardiologist will advise you about any restrictions on activity that you should be aware of. If your baby had open heart surgery, they will have a scar down the middle of the chest, and there will be small scars where drain tubes were used, but these will fade over time.

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