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.

Mild cases of Ebstein’s anomaly may not cause any symptoms until much later in life. If symptoms do occur, they may include:

  • Shortness of breath

  • Fatigue

  • Arrhythmias

  • Palpitation

  • Cyanosis (bluish colour of lips and skin due to low oxygen)​​

​​Set an appointment with one of our doctors at the Children's Hospital Service Line at The Aga Khan University Hospital if you notice the above mentioned symptoms in your child.​

Your time with your doctor maybe limited, so make sure to prepare for your visit beforehand. Here are some tips to help get you started.​​

The doctor may suspect a heart disease when you state your child’s symptoms. Irregular heartbeat, detected using a stethoscope to listen to the heart, also indicates a problem with the heart. The doctor may recommend a series of test to make an accurate diagnosis. These include:

  • Echocardiogram in which sound waves, directed at the heart from a device (transducer) placed on the chest, are used to produce images of the heart. The doctor studies the images to see the valves and chambers of your child’s heart

  • Electrocardiogram (ECG) in which the electrical activity of the heart is recorded to detect any irregularity in the rhythm (arrhythmia) and structure

  • Chest X-ray to detect any enlargement of the heart

  • Cardiac catheterization in which a thin tube (catheter) is inserted in the arm or groin and threaded up to the inside of the heart. This is done to inject a dye in the heart to clearly visualize its structure. This procedure is performed if the non-invasive tests fail to provide adequate information

  • Cardiac Magnetic Resonance Imaging (MRI) which generates a three-dimensional image of the heart to be studied by the doctor to determine the presence of any abnormalities​​

If your child shows no signs and symptoms or presence of arrhythmias, they will have regular check-ups to monitor the disease. The doctor may recommend medications to control the heart rate (in case of irregular heartbeat), to help with heart failure and/or diuretics to prevent water retention.

When the symptoms get severe and cause hindrance in your child’s daily routine, the doctor may recommend surgery. Your personal preference will be taken into consideration before the doctor goes ahead with the surgery. The surgical procedures will be directed at treating Ebstein’s anomaly along with other heart defects associated with it. Surgical procedures include:

  • Tricuspid valve repair in which the valve opening is reduced and the deformed leaflets are brought closer to work properly. Valve repair is only feasible, if there are enough valve tissues to work with

  • Tricuspid valve replacement in which the malformed valve is replaced with a mechanical valve or a bioprosthetic valve (made of human or animal tissue). This is done when the existing valves cannot be repaired

  • Atrial septal defect (ASD) repair in which the hole between the two upper chamber is closed

  • Radiofrequency catheter ablation in which a small tube (catheter) is inserted through a blood vessel in the leg, arm or groin, and threaded up to the heart to destroy a tiny piece of heart tissue using radiofrequency energy. This procedure is used to treat arrhythmias​​

The Aga Khan University Hospital offers various support services to help with managing or recovering from the disease or condition. These include but are not limited to nutrition, physiotherapy, rehabilitation, specialized clinics and some patient support groups. Your doctor or nurse will advise you accordingly.
The Aga Khan University Hospital offers financial assistance to those who are in need and fulfil the eligibility criteria. For further information, you can contact the Patient Welfare Department. You can find the contact number of the Patient Welfare Department in the ‘Important Numbers’ section on the website homepage.
The financial counselling staff is available during office hours, at the main PBSD (Patient Business Services Department), to answer your financial queries on treatments’ costs and authorize admissions on partial deposit as per hospital policies allow. The financial counsellor in the emergency room is open 24/7. You can find the contact number of the Patient Business Services in the ‘Important Numbers’ section on the website homepage.​​

​Your doctor and or nurse will give you specific instructions about the prescribed medication. Please ensure that you take or use the prescribed medicine as advised. It can be dangerous to your health if you self-prescribe. Please inform the doctor or nurse beforehand if you have experienced any adverse reactions to any medications in the past. If you experience any symptoms of drug poisoning, overdose or severe reaction please contact the Pharmacy Service at The Aga Khan University Hospital immediately. You can find the contact number of the Pharmacy Services in the ‘Important Numbers’ section on the website homepage.​​

The information provided on our website is for educational purposes and not intended to be a substitute for medical advice, diagnosis or treatment. You should always seek the advice of your doctor or other healthcare professional provider.