Ebstein’s Anomaly

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Epidemiology

This rare heart condition accounts for only 1% of congenital heart defects but its impact is significant, especially to those directly affected.

About 10% of cases are associated with chronic maternal lithium use.
About 20% of patients with Ebstein’s anomaly have accessory electrical tissue which can cause episodes of heart racing, a condition known as Wolff-Parkinson-White syndrome (WPW).

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 upper and lower chambers on the right side of your heart ) doesn’t work properly. The septal and posterier leaflets of the tricuspid valve are downwardly displaced into the right ventricluar cavaity and the normally situated anterior leaflet may have abnormal leaflet attachments and thus causing blood to leak back through the valve, making your heart work less efficiently. In other words there is an abnormal function in the right ventricle and while there is free flow of blood across the tricuspid valve to the right ventricle, the deformed tricuspid valve allows a large amount of blood to flow backwards from the right ventricle to the right atrium when the right ventricle contracts.

In severe cases, the leaflets may be tethered to the wall of the right heart, inhibiting their movement and leading to severe leakage of blood into the atrium. One leaflet is often enlarged.

Where the valve is placed and how poorly it’s formed varies from person to person. In some people, the valve is only mildly abnormal. In others, the valve may be extremely displaced and malformed, and it may leak severely. The more the valve leaks, the more the right atrium enlarges as it receives more blood. At the same time, the right ventricle enlarges (dilates) as it tries to cope with the leaky valve and still deliver blood to the lungs. Thus, the right-sided chambers of the heart enlarge, and as they do, they weaken, leading to heart failure. Therefore, clinical manifestations of Ebstein’s anomaly are quite variable. Patients with the most severe form of this disease may present with severe congestive heart failure and cyanosis at birth while mild cases may not be discovered until adulthood.

Ebstein’s anomaly may also lead to enlargement of the heart or heart failure. It’s usually associated with an atrial septal defect.

Other heart conditions associated with Ebstein’s anomaly

Three common conditions are:

  • Atrial septal defect. About half the people with Ebstein’s anomaly have a hole between the two upper chambers of the heart called an atrial septal defect (ASD). This hole may allow deoxygenated blood in the right atrium to mix with oxygenated blood in the left atrium, decreasing the amount of oxygen available in your blood. This causes a bluish discoloration of the lips and skin (cyanosis). The ASD associated with Ebstein’s anomaly can increase your risk of a blood clot passing from the veins in your heart into the blood vessels leading to your brain and causing a stroke. If you have surgery to repair your tricuspid valve, your surgeon will also close the ASD at the same time.
  • Abnormal heartbeats (arrhythmias). Some people with Ebstein’s anomaly have an abnormal heart rhythm (arrhythmia) characterized by rapid heartbeats (tachycardia). These types of arrhythmias (tachyarrhythmias) can make your heart work less effectively, especially when the tricuspid valve is leaking severely. In some cases, a very fast heart rhythm may cause fainting spells (syncope).
  • Wolff-Parkinson-White (WPW) syndrome. Some people with Ebstein’s anomaly may also have a condition known as Wolff-Parkinson-White syndrome — an abnormal electrical pathway in the heart. The presence of WPW syndrome can lead to very fast heart rates and fainting spells.

What are the Symptoms of Ebstein’s anomaly?

There may be no signs or symptoms of Ebstein’s anomaly and 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).

Causes

The tricuspid valve is normally made of three parts, called leaflets, this is where the problem occurs.

What are the Risk factors for Ebstein’s anomaly?

Congenital heart defects, like Ebstein’s anomaly, happen early in the development of a baby’s heart. It’s uncertain what risk factors might cause the defect. Genetic and environmental factors are both thought to play a role. In rare cases, a mother’s exposure to lithium or a viral infection may lead to Ebstein’s anomaly.

What Complications can arise?

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.

How do they test and diagnose Ebstein’s anomaly?

If there maybe no signs or symptoms that could indicate a heart defect, the first clue may be an abnormal heart sound or heart murmur discovered during a regular checkup. However, most people with a heart murmur don’t have any heart defects. A doctor uses a stethoscope to listen to your heart and evaluate the quality, frequency and duration of any abnormal sounds. If your doctor suspects an underlying problem, such as congenital heart disease, or if there are other signs and symptoms that may
suggest Ebstein’s anomaly, the doctor may recommend the following tests:

  • 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.
  • Echocardiogram. This noninvasive exam uses ultrasonic waves to show images of your heart. It can detect most congenital heart defects. Ultrasonic waves are transmitted through a device called a transducer, which a technician will move over your heart. The echoes of the waves are recorded and produce images of your heart on a computer monitor so that your doctor can see the valves and chambers 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.
  • Holter monitor testing. 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.
  • Cardiac catheterization. Doctors rarely use this more invasive technique for Ebstein’s anomaly. In a few cases, however, a person may need cardiac catheterization to obtain additional information, to confirm findings from other tests, or to check heart arteries. During cardiac catheterization, a slender, flexible tube (catheter) is inserted into a vein or artery at the top of your leg (groin) or into your arm. Aided by X-ray images on a monitor, your doctor threads the catheter through that artery until it reaches your heart. A special dye injected through the catheter helps your doctor see the blood flow through your heart, blood vessels and valves, and allows your doctor to check for abnormalities inside the heart and lungs.

Treatments and drugs

The treatment of this disorder depends on whether or not the person with it has any symptoms or put another way it depends on the severity of the defect and the signs and symptoms. Surgery is sometimes required early in life. On the other hand, people may have a normal life expectancy. Irregular and fast heartbeats (arrhythmia) frequently accompany this condition. The goal of the treatment is to reduce the symptoms and avoid further complications, such as, heart failure and arrhythmias. Treatments may include:

  • Regular monitoring
  • Medication
  • Surgical heart repair: Tricuspid valve repair, Tricuspid valve replacement, Closure of the atrial septal defect (ASD), Maze procedure, Radiofrequency catheter ablation, Heart transplantation

Regular monitoring
If there are no signs or symptoms or abnormal heart rhythms, your doctor may recommend only careful monitoring of your heart condition with regular check-ups. Check-ups 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
The management of Ebstein’s anomaly depends on symptoms, the age of the patient, and the anatomy. Surgery is indicated when there is congestive heart failure from a leak in the tricuspid valve, or significant cyanosis. There is less certainty about the need for surgery in a patient with no symptoms. Some patients with Ebstein’s anomaly are free of symptoms until the development of an arrhythmias. These patients may be candidates for both surgical repair of Ebstein’s and specific treatment of the arrhythmia. Patients with supraventricular tachycardia from WPW syndrome may be treated with RF ablation; however, this procedure is usually more difficult in Ebstein’s anomaly because of the abnormal location of the tricuspid valve.

There are several different surgical options for Ebstein’s anomaly. Tricuspid valve reconstruction is preferred, if feasible, but requires the expertise of a surgeon who has established experience with this operation. The operation can consists of tricuspid valve reconstruction with plication of the atrialized portion of the right ventricle and, if present, closure of the communication between the right and left atrium. The anterior leaflet of the tricuspid valve is incised and repositioned along the newly established tricuspid valve annulus to produce a monocusp tricuspid valve. Tricuspid valve replacement is an alternative when repair is not feasible.

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.

Coping and support

If you or your child has mild Ebstein’s anomaly, here are some steps that may help you cope:

  • Follow up on medical care. Be sure to follow up with your cardiologist or pediatrician for regular evaluations. Be an active participant in monitoring the condition and report any new or worsening signs or symptoms. 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 doctor allows. Exercise can help strengthen your heart and improve your 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 specialised 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.

Disclaimer:

The facts and opinions shown in this article are as accurate and up to date as possible, but are provided as general “information resources”, which may not be relevant to individual persons. This article is not a substitute for individual assessment and always take advice from a doctor who is familiar with the particular person.

Consult you or your child’s physician regard the specific outlook for you or your child.
Related Links
http://en.wikipedia.org/wiki/Ebstein%27s_anomaly
www.mayoclinic.com
www.congenitalheartdefects.com
www.congenitalheart.hs.columbia.edu

Support Groups

www.ebsteins.org – UK
www.ebsteinsanomaly.org – USA