What Is Ebstein’s Anomaly?

Medically reviewed by Karen Gill, MD on January 25, 2018Written by Donna Christiano on January 25, 2018

Overview

Ebstein’s anomaly is a congenital defect. A congenital defect is something that is present at birth. It affects a portion of the heart called the tricuspid valve. This valve, located on the right side of the heart, separates the right atrium (one of two upper chambers of the heart that holds blood) and the right ventricle (the lower chamber of the heart that pushes the blood out to the lungs).

With Ebstein’s anomaly, the tricuspid valve is located too far down into the right ventricle. Parts of the valve can also be attached to the ventricle wall. These deformities mean the valve doesn’t function properly. In many cases, blood will flow back into the right atrium when the right ventricle is squeezed during the pumping process. This can cause heart enlargement, which, in turn, can lead to some serious health complications, such as heart failure. Ebstein’s anomaly may also be associated with a heart murmur or abnormal heart rhythms.

Symptoms

In severe cases, symptoms of Ebstein’s anomaly will be present at birth. In other cases, symptoms can be so mild they aren’t apparent until adulthood, if ever.

If symptoms are present, they generally include:

  • shortness of breath, even with little exertion
  • a blue tinge to lips or skin
  • fatigue, caused by poorly oxygenated blood
  • heart palpitations or a racing heartbeat

Causes

Ebstein’s anomaly occurs during fetal development for reasons that aren’t entirely clear. It occurs in the first of life. The disorder can have a genetic component to it as well, but researchers have not been able to identify which gene is responsible.

Ebstein’s anomaly and lithium

There may be a connection between lithium use during pregnancy and Ebstein’s anomaly, though this has not been proven. Any potential increased risk is small. Lithium is a mood-stabilizing drug often used to treat mental disorders such a bipolar disorder.

In , use of lithium in the first trimester of pregnancy resulted in one additional case of cardiac defects, including Ebstein’s anomaly, per 100 births. Researchers do note, however, that the higher the dose of lithium, the more likely it is that a cardiac malformation will result.

If you’re pregnant or thinking of becoming pregnant and you take a lithium-containing drug, speak to your doctor about the benefits and risks.

Incidence

Ebstein’s anomaly is a rare condition. Its true incidence is unknown, but it’s estimated to affect about . It’s more common in Caucasian people than in those of other races, and it shows no gender preference, affecting boys and girls equally.

Related conditions

Many people with Ebstein’s anomaly have other heart problems associated with the defect. They include:

  • A hole between the right and left upper chambers of the heart, called patent foramen ovale, or PFO. This hole is normal in newborn babies and usually closely shortly after birth. In babies with Ebstein’s anomaly, pressure within the right atrium keeps the hole open, allowing unoxygenated blood from the right side of the heart to travel to the left side, and out to the body.
  • Wolff-Parkinson-White syndrome (WPW). WPW is another congenital heart defect in which a person is born with an extra electrical pathway in the heart. Electrical impulses are sent along this pathway and can disrupt the heart’s carefully orchestrated rhythm, causing an abnormal or faster-than-normal heartbeat.

Diagnosis

After a physical exam and an assessment of your symptoms, a definitive diagnosis of Ebstein’s anomaly is generally made via imaging tests. They may include any or all of the following:

Treatment

Treatment for Ebstein’s anomaly varies based on the severity of symptoms. This is also true of newborns with the condition. In some cases, immediate action, like surgery, will need to be taken. In other cases, a wait and watch approach may be advised.

When treatment is needed, it generally includes:

  • Monitoring. If symptoms are mild, you may not need treatment. Your doctor will want to use imaging tests to monitor your condition and make sure symptoms don’t become more severe.
  • Medications. If Ebstein’s anomaly is causing heartbeat disturbances, your doctor can prescribe drugs that help control it. Other medications can be used to prevent fluid retention in the body or blood clots. Blood clots and fluid retention (edema) are common side effects of a heart that does not pump efficiently.
  • Surgery. When symptoms are severe and the heart is becoming enlarged, your doctor may recommend surgery. In some cases, surgeons will try to repair the tricuspid valve. In other cases, the valve may have to be completely removed and replaced with an artificial valve or what doctors call a “bioprosthesis,” which is a valve from a cow or pig.

Outlook

With proper treatment and monitoring, most people with Ebstein’s anomaly can lead long, healthy lives, particularly if symptoms begin after age 1.

Most women with Ebstein’s anomaly who have well-oxygenated blood can tolerate pregnancy with few, if any, complications. People with a mild case of the disorder and no heart enlargement can participate in sports and physical activities. People with moderate cases of Ebstein’s anomaly are encouraged to stay active, with medical guidance.

Ebstein’s anomaly can be serious, but it can also be well managed and should not prevent most people from living a full, healthy life.

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