Diseases & Conditions

Ebstein's anomaly

Ebstein's anomaly is a rare heart defect that's present at birth (congenital). In Ebstein's anomaly, your tricuspid valve — the valve between the chambers on the right side of your heart — doesn't work properly. Blood leaks back through the valve, making your heart work less efficiently. Ebstein's anomaly may also lead to enlargement of the heart or heart failure.

If you have no signs or symptoms of Ebstein's anomaly, careful monitoring of your heart may be all that's necessary. If signs and symptoms become troublesome, or if the heart is enlarging or becoming weaker, treatment for Ebstein's anomaly may be necessary. Treatment options include medications and surgery.

Mild forms of Ebstein's anomaly may not cause symptoms until later in adulthood. Even some people with very abnormal valves may have minimal, if any, problems. Ebstein's anomaly symptoms may develop slowly over many years and include:

• Shortness of breath
• Fatigue, especially with exertion
• Leg swelling
• Heart palpitations or abnormal heart rhythms (arrhythmias)
• A bluish discoloration of the lips and skin caused by low oxygen (cyanosis)

Newborns and infants who are diagnosed with Ebstein's anomaly usually show signs of cyanosis early, in addition to signs and symptoms of heart failure. When signs and symptoms appear at such a young age, this usually indicates a severe defect that requires treatment.

Older children may show signs of heart failure, such as tiring easily or becoming short of breath during play. Their other symptoms may include heart pounding or racing or cyanosis, especially around the lips and fingertips.

When to see a doctor
If you or your child has signs or symptoms of heart failure — such as feeling easily fatigued or short of breath, even with normal activity — or is showing blue skin coloration around the lips and nails (cyanosis), talk to your doctor. He or she may refer you to a doctor who specializes in heart disease (cardiologist).

Many people with mild Ebstein's anomaly have few complications. However, you may need to take some precautions in certain situations:

• Being active. If you have mild Ebstein's anomaly with a nearly normal heart size and no heart rhythm disturbances, you can probably participate in most physical activities. Depending on your signs and symptoms, your doctor may recommend that you avoid competitive sports, such as football or basketball. Your cardiologist can help you decide which activities are right for you.

• During pregnancy. In most cases, women with mild Ebstein's anomaly can safely have children. But pregnancy does have its risks. Being pregnant puts additional strain on your heart and circulatory system not only during pregnancy, but also during labor and delivery and for a period of time after your baby's birth. There is an increased risk of stroke if you have a hole between the upper chambers of the heart (atrial septal defect).

  Rarely, women with Ebstein's anomaly develop severe complications that can cause death during pregnancy. If you plan on becoming pregnant, be sure to talk to your cardiologist ahead of time. He or she can tell you if it's safe for you to become pregnant and help decide how much extra monitoring you may need throughout pregnancy and childbirth.

Other complications that may result from Ebstein's anomaly include heart failure, rhythm problems and, less commonly, sudden cardiac arrest or stroke.

Treatment of Ebstein's anomaly depends on the severity of the defect and your signs and symptoms. The goal of treatment is to reduce your symptoms and avoid future complications, such as heart failure and arrhythmias. Treatments may include:

Regular monitoring
If you have no signs or symptoms or abnormal heart rhythms, your doctor may recommend only careful monitoring of your heart condition with regular checkups. Checkups typically include a physical exam, electrocardiogram, chest X-ray, echocardiogram and, if necessary, a Holter monitor test. Your doctor may also ask you to undergo an exercise test, such as walking on a treadmill. This test checks your heart's response to physical activity.

Medications
If you have heart rhythm disturbances, medications may help control heart rate and maintain normal heart rhythm. Doctors commonly use medications, including calcium channel blockers, beta blockers, digitalis and anti-arrhythmic drugs, such as amiodarone.

Your doctor may also prescribe medications for signs and symptoms of heart failure, if you need them. These may include diuretics and other medications.

Surgical heart repair
Your doctor may recommend surgical repair when your signs and symptoms are troublesome or when your heart begins to enlarge and overall heart function begins to decrease. Because Ebstein's anomaly is rare, choose a surgeon who's familiar with the defect and who has experience performing procedures to correct it. Different types of procedures can be used to surgically treat Ebstein's anomaly and associated defects, including:

• Tricuspid valve repair. This involves reducing the size of the valve opening and allowing the existing valve leaflets to come together to work properly. This procedure is usually done when there's enough valve tissue to allow for repair.
• Tricuspid valve replacement. If the existing valve can't be repaired, it may be replaced by removing the deformed valve and inserting either a mechanical valve or a specially treated biological tissue (bioprosthetic) valve. If a mechanical valve is used, you'll need to take a blood-thinning medication for the rest of your life.
• Closure of the atrial septal defect (ASD). If an ASD is present, your surgeon can close the hole during surgery to repair or replace the defective valve.
• Maze procedure. Another procedure that doctors may perform during valve repair or replacement surgery is called a maze procedure. It's used to help correct fast heart rhythms in the atrium (atrial tachyarrhythmias). To do the procedure, your surgeon makes a series of incisions in the right atrium with a scalpel or a device that destroys tissue by freezing it. When these incisions heal, the scars create a barrier of tissue in your heart that causes it to beat at a normal rate. The Maze procedure is an open-heart surgery.

Radiofrequency catheter ablation
Radiofrequency catheter ablation is another procedure that can help treat a fast heartbeat or WPW syndrome. In this procedure, one or more catheters are threaded through your blood vessels to your inner heart, where the electrical impulses that cause your heart to beat are generated. Electrodes at the catheter tips are heated with radiofrequency energy. This destroys (ablates) a small spot of heart tissue and creates an electrical block along the pathway that's causing your arrhythmia. Usually, this stops your arrhythmia.

Heart transplantation
If you have Ebstein's anomaly with a severely malformed valve and poor heart function, a heart transplant may be necessary.