Ebstein’s Anomaly

Ebstein’s anomaly is a rare congenital (present at birth) heart defect of the tricuspid valve (valve situated between the heart chambers).

The heart contains four chambers; two upper chambers called atria and two lower chambers called ventricles. The oxygen-poor blood enters the right side of the heart from the rest of the body, which is then pumped to the lungs to be oxygenated. The oxygen-rich blood returns to the left side of the heart and from there, pumped to the rest of the body. The tricuspid valve separates the right atrium from the right ventricle. In Ebstein’s anomaly, the tricuspid valve is positioned incorrectly; it is further down the right ventricle then it should be. This causes the right atrium to be larger than normal. Moreover, the tricuspid valve’s leaflets are deformed which allows the blood to leak back through the valve, reducing the efficiency of the heart. 

These abnormalities also result in the enlargement of the atrium and heart failure. The severity of the disease depends on the position and the abnormality of the tricuspid valve.

Ebstein’s anomaly often occurs with other heart defects such as atrial septal defect (opening in the wall between the two atria), pulmonary stenosis (narrowing of the pulmonary valve) and arrhythmias (irregular heartbeats).

Ebstein’s anomaly occurs during the initial stages of the foetal development. While the exact cause of this anomaly is unknown, it is believed that genetics and mother’s exposure to certain medications play a role. It affects both genders equally.

When to seek expert advice

If you are experiencing chest pain, shortness of breath or blood in your sputum, you may be suffering from pulmonary oedema. It is important to seek medical attention immediately to figure out the exact cause. Your physician can help you avoid pain and unnecessary complications. It is advisable not to drive yourself to the hospital. If you need an ambulance call 24/7 Emergency and Acute Care Services​, at The Aga Khan University Hospital.

A detailed examination by a medical specialist at the Department of Paediatrics at The Aga Khan University Hospital will help in providing a detailed diagnosis.