Ebstein's Anomaly (Adults)

What is Ebstein’s anomaly?

Ebstein’s anomaly is a rare congenital heart condition. Congenital means that something is present at birth. An anomaly is something that’s unexpected or unusual. Ebstein’s anomaly affects the function of the tricuspid valve, which is one of four valves in your heart.

A German physician named Wilhelm Ebstein first described the condition in 1866.

What happens to the tricuspid valve in Ebstein’s anomaly?

In people with Ebstein’s anomaly, this valve is:

• Malformed: The leaflets, or moving parts of the valve that open and close with each heartbeat, are abnormally shaped and can be stuck to the heart wall.
• Misplaced: The valve usually sits lower than normal in the heart.

As a result of these issues, blood leaks backward into the right atrium (regurgitation), or upper right chamber of the heart. The atrium can also become oversized. Over time, the enlarged right side of the heart can weaken, leading to heart failure.

Who does Ebstein’s anomaly affect?

People with Ebstein’s anomaly frequently have other heart conditions. Up to 94% have a hole in the wall that separates the two upper chambers of the heart (atrial septal defect or patent foramen ovale).

Defects in the other heart valves and the left chambers of the heart can also occur in people with Ebstein’s anomaly.

How common is Ebstein’s anomaly?

About one in every 200,000 babies are born with Ebstein’s anomaly. It accounts for less than 1% of all congenital heart defects.

What are the symptoms of Ebstein’s anomaly?

The condition and its symptoms range from mild to severe, depending on the extent of the malformations.

When the condition is severe, symptoms appear shortly after birth or in the first months of life. The infant’s skin may have a bluish tint (cyanosis) from a lack of oxygen in the blood. They may also have early signs of heart failure, including:

• Rapid breathing.
• Shortness of breath.
• Slow weight gain.
• Swelling (edema) of the legs, abdomen or area around the eyes.

If your condition is mild, you may not have symptoms or your symptoms may not appear until adulthood. In adults, symptoms include a bluish tint to the skin and an irregular heartbeat (arrhythmia). If you develop heart failure, your symptoms may include:

• Chest pain.
• Dizziness or fainting.
• Fatigue.
• Shortness of breath, especially during exercise.
• Swelling of the legs or abdomen.

What causes Ebstein’s anomaly?

Healthcare providers aren’t sure why Ebstein’s anomaly occurs. It’s probably caused by a combination of genetic and environmental factors, but the specific factors are unknown.

How is Ebstein’s anomaly diagnosed?

A provider will review your symptoms and check your vital signs. You may need tests to find out how well your heart is functioning, such as:

• Cardiac imaging: A chest X-ray can show an enlarged heart. A cardiac MRI provides greater detail of the valves and chambers.
• Echocardiogram: This is an ultrasound of your heart. An echocardiogram helps your provider check the structure and function of your heart valves and chambers.
• Electrocardiogram (EKG): This test measures the electrical impulses of your heart. An electrocardiogram can detect an abnormal heart rhythm.
• Exercise stress test: This is an electrocardiogram your provider usually performs while you exercise (such as running on a treadmill or riding a bicycle). An exercise stress test measures how well your heart functions when it has to work hard.
• Holter monitor: You wear this device for 24 to 48 hours while it collects electrocardiogram measurements of each heartbeat. A Holter monitor helps your provider evaluate your heart rhythm and heart rate over a longer period of time.

How is Ebstein’s anomaly treated?

Treatment depends on how severe your symptoms are. If you have mild or no symptoms, your provider may monitor your heart and watch for changes.

If you have signs of heart failure or arrhythmia, you may receive noninvasive treatments, such as:

• Medications to help you manage arrhythmia and heart failure.
• Physical activity restrictions may help if you have an enlarged heart or history of arrhythmia. Follow your provider’s recommendations.

For more severe symptoms, tricuspid valve surgery may be the best option to provide lasting improvement in valve function. If there is enough tissue present, surgeons can repair the valve. This is the preferred treatment because it uses your own tissue.

If repair isn’t an option, it’s possible to insert a replacement mechanical valve or one made of biological tissue. If you receive a mechanical valve, you will need to take blood-thinning medication for the rest of your life.

Your provider may combine tricuspid valve surgery with other heart procedures. This may include repair of the hole between the heart’s upper chambers or arrhythmia treatment. There are many types of treatment for arrhythmia, including catheter ablation or a pacemaker. Rarely, you may need a heart transplant if other treatments have failed.

How can I prevent Ebstein’s anomaly?

Since healthcare providers don’t know how Ebstein’s anomaly develops, you can’t prevent it.

What is the outlook for Ebstein’s anomaly?

The prognosis for Ebstein’s anomaly varies widely. Some infants with the condition don’t survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition.

People who undergo surgery may continue to have heart problems. Lifespan after surgery may also decline. One study followed 539 patients with Ebstein’s anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.

When should I see my healthcare provider?

If you have Ebstein’s anomaly, tell your provider if your symptoms get worse or you develop new ones. These might include:

• Bluish skin.
• Decreased energy.
• Fluid retention.
• Rapid heartbeat.

A note from Cleveland Clinic

Ebstein’s anomaly is a rare congenital condition of the heart that varies widely in how it affects people. When diagnosed in infancy, the defects are usually more severe. Those who survive to adulthood have a milder form of the condition but may develop arrhythmias and heart failure. If this occurs, you may need surgery to repair or replace your tricuspid valve and fix other related heart problems. You need regular checkups to find any changes in your heart function and get effective treatment.