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Definition

What is 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 two right heart chambers (right atrium and right ventricle) — doesn’t work properly. The tricuspid valve sits lower than normal in the right ventricle, and the tricuspid valve’s leaflets are abnormally formed.

Blood may leak 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 associated with Ebstein’s anomaly, careful monitoring of your heart may be all that’s necessary. If signs and symptoms bother you, or if the heart is enlarging or becoming weaker, treatment for Ebstein’s anomaly may be necessary. Treatment options include medications and surgery.

How common is Ebstein’s anomaly?

Ebstein’s anomaly is quite rare. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Ebstein’s anomaly?

The common symptoms of Ebstein’s anomaly are:

  • Blue or purple tint to lips, skin and nails (cyanosis)
  • Heart murmur and clicks: extra heart sounds heard when a doctor listens with a stethoscope
  • Racing heart
  • Shortness of breath
  • Fatigue

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Ebstein’s anomaly?

“Anomaly” means a difference or irregularity. In a child born with Ebstein’s anomaly, the tricuspid valve did not form properly during fetal development. A normal tricuspid valve has three leaflets, and opens and closes to allow blood to flow from the upper to the lower chamber without going backwards. With Ebstein’s anomaly, one or two of the three leaflets may be “stuck” to the walls of the right ventricle or the septum (the muscular wall between the heart’s left and right ventricles). The valve may be severely malformed and the leaflets may be found to be positioned lower than in a normal heart. As a result the right atrium may be larger and the right ventricle smaller than normal.

Risk factors

What increases my risk for Ebstein’s anomaly?

There are many risk factors for Ebstein’s anomaly, such as:

  • A family history of heart defects
  • Maternal exposure to certain medications, such as lithium

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Ebstein’s anomaly diagnosed?

To diagnose Ebstein’s anomaly, your doctor may review your signs and symptoms and conduct a physical examination. If your doctor suspects an underlying problem, such as congenital heart disease, or if you have other signs and symptoms that may suggest Ebstein’s anomaly, your doctor may recommend several tests, including:

  • This test is often used to diagnose Ebstein’s anomaly and other congenital heart defects. In this test, sound waves produce detailed images of your heart. This test assesses the structure of your heart, the tricuspid valve and the blood flow through your heart. Your doctor may also order a transesophageal echocardiogram. In this test, your doctor inserts a tube with a tiny sound device (transducer) into the part of your digestive tract that runs from your throat to your stomach (esophagus). Because the esophagus lies close to your heart, the transducer provides a detailed image of your heart.
  • Electrocardiogram (ECG). An ECG uses sensors (electrodes) attached to your chest and limbs to measure the timing and duration of your heartbeat. An ECG can help your doctor detect irregularities in your heart’s rhythm and structure, and offer clues as to the presence of an extra pathway.
  • Chest X-ray. A chest X-ray shows a picture of your heart, lungs and blood vessels. It can reveal if your heart is enlarged, which may be due to Ebstein’s anomaly.
  • Cardiac MRI. A cardiac MRI uses magnetic fields and radio waves to create detailed images of your heart. This test may be used to determine the severity of your condition, get a detailed view of the tricuspid valve, and assess the size and function of your lower right heart chamber (right ventricle).
  • Holter monitor. This is a portable version of an ECG. It’s especially useful in diagnosing rhythm disturbances that occur at unpredictable times. You wear the monitor under your clothing. It records information about the electrical activity of your heart as you go about your normal activities for a day or two.
  • Pulse oximetry. In this test, a sensor attached to your finger or toe measures the amount of oxygen in your blood.
  • Exercise stress test. During this test, you walk on a treadmill or ride a stationary bicycle while your blood pressure, heart rate, heart rhythm and breathing are monitored. A stress test may be used to get an idea of how your heart responds to exercise. It can help your doctor decide what level of physical activity is safe for you.
  • Electrophysiology study. This test may be used to diagnose irregular heart rhythms (arrhythmias). In this test, doctors thread thin, flexible tubes (catheters) tipped with electrodes through your blood vessels to a variety of spots within your heart. Once in place, the electrodes can map the spread of electrical impulses through your heart. In addition, your doctor can use the electrodes to stimulate your heart to beat at rates that may trigger — or halt — an arrhythmia. This may help your doctor to determine if medications may help treat the arrhythmia.
  • Cardiac catheterization. Doctors rarely use this test to diagnose Ebstein’s anomaly. However, in a few cases doctors may order it to obtain additional information, to confirm findings from other tests, or to check heart arteries. In this procedure, doctors insert a long, thin tube (catheter) into a blood vessel in your groin, arm or neck and guide it to your heart using X-ray imaging. A special dye injected through the catheter helps your doctor see the blood flow through your heart, blood vessels and valves; measure pressures and oxygen levels in your heart; and look for abnormalities inside the heart and lungs.

How is Ebstein’s anomaly treated?

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.

Follow-up appointments generally include a physical examination and tests. Tests may include an electrocardiogram, echocardiogram, a Holter monitor test and an exercise stress test.

Medications

If you have heart rhythm disturbances, medications may help control your heart rate and maintain normal heart rhythm.

Your doctor may also prescribe medications for signs and symptoms of heart failure, if needed, such as drugs to prevent water retention (diuretics) and other medications. You also may be given medications to prevent blood clots if you have certain heart rhythm problems or a hole (atrial septal defect) between the upper heart chambers.

Some babies may be given a medication to keep a connection (ductus arteriosus) open between two major blood vessels leading from the heart — the aorta and pulmonary artery. This can help increase blood flow to the lungs. Some babies also may be given an inhaled substance called nitric oxide to help improve blood flow to the lungs.

Surgery

Your doctor may recommend surgery when your symptoms are affecting your quality of life. Surgery may also be recommended if you have mild symptoms but your heart is beginning to enlarge and your overall heart function is beginning to decrease. Because Ebstein’s anomaly is rare, choose a surgeon who’s familiar with the defect and who has training and experience performing procedures to correct it.

Several different types of procedures can be used to surgically treat Ebstein’s anomaly and associated defects, including:

  • Tricuspid valve repair. In this procedure, surgeons reduce the size of the valve opening and allow the existing valve leaflets to come together to work properly. A band may be placed around the valve to stabilize the repair. This procedure is usually done when there’s enough valve tissue to allow for repair. Some surgeons perform a newer form of tricuspid valve repair called cone reconstruction. In cone reconstruction, surgeons separate the leaflets of the tricuspid valve from the heart muscle. The leaflets are then rotated and reattached, creating a “leaflet cone.” In some cases, your valve may need to be repaired again or your valve may need to be replaced in the future.
  • Tricuspid valve replacement. If the existing valve can’t be repaired, your surgeon may replace the valve by removing the deformed valve and inserting either a biological tissue (bioprosthetic) or mechanical valve. Mechanical valves generally aren’t used often in tricuspid valve replacement. 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. If a hole is present between the two upper chambers of the heart (atrial septal defect), your surgeon can close the hole during surgery to repair or replace the defective valve. Your surgeon can also repair other associated heart defects that may be present during surgery to repair or replace the tricuspid valve.
  • Maze procedure. If you have fast heart rhythms, your surgeon may perform the maze procedure to correct the fast heart rhythms during surgery to repair or replace the tricuspid valve. In this procedure, your surgeon makes small incisions in the upper chambers of your heart to create a pattern or maze of scar tissue. Because scar tissue doesn’t conduct electricity, it interferes with stray electrical impulses that cause some types of fast heart rhythms. Extreme cold (cryotherapy) or radiofrequency energy may also be used to create the scars.

Radiofrequency catheter ablation

If you have fast or abnormal heart rhythms, your doctor may perform radiofrequency catheter ablation. In this procedure, your doctor threads one or more catheters through your blood vessels to your heart. Electrodes at the catheter tips can use radiofrequency energy to damage (ablate) a small spot of heart tissue and create an electrical block along the pathway that’s causing your arrhythmia. In some cases, repeat procedures may be necessary.

Heart transplantation

If you have severe Ebstein’s anomaly and poor heart function, a heart transplant may be necessary.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Ebstein’s anomaly?

The following lifestyles and home remedies might help you cope with Ebstein’s anomaly:

  • Follow up on medical care. Be sure to follow up with your cardiologist trained in congenital heart disease for regular evaluations. Be an active participant in monitoring the condition and report any new or worsening signs or symptoms to your doctor. Timely treatment can keep the condition from becoming worse.
  • Take medications as prescribed. Taking medications at the right dose and the right time can help improve symptoms such as racing heartbeats, fatigue and shortness of breath.
  • Stay active. Be as physically active as your or your child’s doctor allows. Exercise can help strengthen the heart and improve blood circulation.If you’re a parent of a child with Ebstein’s anomaly, it’s natural to want to protect your child from harm. But remember that your child needs to live life as normally as possible. Encourage playtime with breaks as needed. Ask your doctor for a note you can give to your child’s teachers or caregivers describing any restrictions on his or her physical activity.
  • Develop a support network. Although many people with congenital heart defects lead normal, healthy lives, living with a heart defect isn’t always easy, particularly when you or your child needs continued specialized care. The physical, emotional and financial stress of coping with a serious health condition can be overwhelming.Having family and friends you can rely on is critical to successful coping. In addition, you may wish to ask your doctor about local support groups that may be helpful. Support groups can be a great source of practical information, comfort and friendship.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: October 11, 2017 | Last Modified: October 11, 2017

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