Ebstein's Anomaly for Adults

Overview

What is Ebstein's anomaly?

Ebstein's anomaly, also called Ebstein's malformation, is a rare, congenital (present at birth) heart defect.

In patients with Ebstein's anomaly, the valve between the chambers on the right side of the heart (the tricuspid valve) does not close correctly. The right side of the heart is where blood returns from the rest of the body and gets pumped out to the lungs to pick up oxygen again.

The tricuspid valve has three small flaps (leaflets). Normally, these leaflets open so that blood can flow from the right atrium (the top chamber of the heart) down into the right ventricle (the bottom chamber of the heart). The valve closes while the heart pumps so that blood cannot flow backwards. (See image of the heart's anatomy)

If you have Ebstein's anomaly, the flaps on the tricuspid valve are abnormally shaped, too large or adhered to the heart wall so they cannot move. It's not unusual for two of the valve flaps to be down in the ventricle where they don't belong. As a result of these abnormalities, the valve cannot open and close correctly, and blood can leak backwards into the atrium.

The misplaced valve flaps in the ventricle cause a section of the ventricle to become part of the right atrium. This creates an over-sized right atrium and also causes the right ventricle to expand as it pumps harder and harder to push the blood to the lungs. Over time, the enlarged right side of the heart weakens and heart failure develops.

Who is affected by Ebstein's anomaly?

About one in 20,000 infants is born with Ebstein's anomaly, and it accounts for less than 1 percent of all congenital heart defects.

Ebstein's anomaly is often associated with an atrial septal defect – a small hole in the wall between the two upper chambers of the heart – and heart rhythm abnormalities.

Symptoms and Causes

What are the symptoms of Ebstein’s anomaly?

The symptoms of Ebstein’s anomaly depend on how severe the defect is.

When the defect is severe, it is usually diagnosed at birth or in the first months of life. The infant’s skin may have a bluish tint, which can be the first sign of the defect, along with early symptoms of heart failure. When symptoms appear this early in life, the defect is usually severe and immediate treatment is required.

When Ebstein’s anomaly is diagnosed in adulthood, the defect is often less severe and the symptoms are less dramatic. Sometimes, Ebstein’s anomaly is mild in childhood but worsens over time and symptoms develop. In adults, the most common symptoms include shortness of breath, occasional chest pain, getting winded easily during exercise and heart rhythm disturbances (arrhythmia).

If you are an adult with Ebstein’s anomaly, you should have regular appointments with a cardiologist who specializes in adult congenital heart defects. The doctor will use an electrocardiogram, chest X-rays, echocardiograms and other tests to monitor your heart’s size, pumping ability and rhythm.

Management and Treatment

As an adult with Ebstein’s anomaly, when will I need treatment?

Ebstein’s anomaly has the greatest variation in severity among all congenital heart defects. Some infants with the defect do not survive gestation, while other individuals live a normal life span and never need treatment.

As an adult with a mild Ebstein’s malformation, you may not need any treatment for years. If you have an arrhythmia, you may be treated with medication to control your heart rate and rhythm. Depending on the severity of the arrhythmia, you may need nonsurgical treatment such as radiofrequency ablation to fix your heart rhythm. If you develop heart failure, you may need other medications, such as a diuretic.

The course of Ebstein’s anomaly is unpredictable, however, and the condition could worsen to the point where your symptoms are bothersome, or your heart could enlarge, leading to decreased heart function. In either of these situations, surgical treatment may be necessary.

What type of surgery is used to treat Ebstein’s anomaly?

Ebstein’s anomaly is a rare heart defect, particularly among adults, so should you require surgery, you will want to choose a surgeon with experience in treating adults with this specific condition. The most likely place to find a heart surgeon with this type of experience will be at a large academic medical center.

There are several surgical procedures used to treat Ebstein’s anomaly:

Repair or replacement of the tricuspid valve

The goal of this surgery is to fix the defective valve between the right atrium and the right ventricle so that the leaflets open and close correctly.

When there is enough tissue present, the valve can be repaired. This is the preferred treatment because it uses your own tissue. When the existing valve cannot be repaired, it is possible to replace it with a mechanical valve or one made of biologic tissue. If you receive a mechanical valve replacement, you will need to take blood-thinning medication for the rest of your life.

Atrial septal defect repair

Many people with Ebstein’s anomaly have a hole in the septum (the tissue between the heart’s upper chambers [the atria]). This hole will be closed surgically at the same time the valve repair is performed.

Arrhythmia surgery (maze procedure)

Depending on the type of arrhythmia you have, you may undergo maze surgery in combination with valve surgery. During maze surgery, the surgeon creates new electrical pathways in the heart that restore the normal heart rhythm.

Heart transplant

In the most severe cases, when the valve is seriously deformed, heart function is poor and other treatments are not effective, a heart transplant may be the best treatment option.

In a recently published study of patients between the ages of 4 and 58 who had surgery for Ebstein’s anomaly, survival and heart function were very good 10 years later.

Resources

How to find a doctor if you have adult congenital heart disease

Doctors vary in quality due to differences in training and experience; hospitals differ in the number of services available. The more complex your medical problem, the greater these differences in quality become and the more they matter.

Clearly, the doctor and hospital that you choose for complex, specialized medical care will have a direct impact on how well you do. To help you make this choice, read more about our Miller Family Heart, Vascular & Thoracic Institute Outcomes.

The Center for Adult Congenital Heart Disease in the Sydell and Arnold Miller Family Heart, Vascular & Thoracic Institute is a specialized center involving a multi-disciplinary group of specialists, including cardiologists, cardiac surgeons and nurses from Cardiovascular Medicine, Pediatric Cardiology, Pediatric and Congenital Heart Surgery, Cardiothoracic Surgery, Diagnostic Radiology, Pulmonary, Allergy and Critical Care Medicine, and Transplantation Center, who provide a comprehensive approach to diagnosing and treating adult congenital heart disease.

Learn more about specialized teams of doctors who treat congenital heart disease.

You may also use our MyConsult second opinion consultation using the Internet.

For younger patients with congenital heart disease:

See About Us to learn more about the Sydell and Arnold Miller Family Heart, Vascular & Thoracic Institute.

Contact

If you need more information, click here to contact us, chat online with a nurse or call the Miller Family Heart, Vascular & Thoracic Institute Resource & Information Nurse at 216.445.9288 or toll-free at 866.289.6911. We would be happy to help you.

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Last reviewed by a Cleveland Clinic medical professional on 04/29/2019.

References

  • Darst JR, Collins KK, Miyamoto SDCardiovascular Diseases. In: Hay WW, Jr., Levin MJ, Deterding RR, Abzug MJ. eds. CURRENT Diagnosis & Treatment: Pediatrics, 22e. New York, NY: McGraw-Hill; 2013.
  • American Heart Association. About Congenital Heart Defects (http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/About-Congenital-Heart-Defects_UCM_001217_Article.jsp) Accessed 3/12/2015.
  • Centers for Disease Control and Prevention. Facts about Congenital Heart Defects (http://www.cdc.gov/ncbddd/heartdefects/facts.html) Accessed 3/12/2015.
  • National Heart, Lung, and Blood Institute. What are Congenital Heart Defects? (http://www.nhlbi.nih.gov/health/health-topics/topics/chd/) Accessed 3/12/2015.
  • Hirsh JC, Devaney EJ, Ohye RG, Bove EL. Chapter 19B. The Heart: II. Congenital Heart Disease. In: Doherty GM. eds. CURRENT Diagnosis & Treatment: Surgery, 13e. New York, NY: McGraw-Hill; 2010.

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