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Ebstein's anomaly

Overview

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.

Ebstein's anomaly

Ebstein's anomaly is a rare heart defect in which the tricuspid valve — the valve between the upper right chamber (right atrium) and the lower right chamber (right ventricle) of the heart — doesn't work properly. As a result, blood leaks back through the valve and into the right atrium. Atrial septal defect (labeled patent foramen ovale) is a hole between the two upper chambers of the heart. About half the people with Ebstein's anomaly have an atrial septal defect.

Symptoms

Mild forms of Ebstein's anomaly may not cause symptoms until later in adulthood. If signs and symptoms are present, they may include:

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

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 congenital heart disease (cardiologist).

Causes

Ebstein's anomaly is a heart defect that you have at birth (congenital). Why it occurs is still unknown. To understand how Ebstein's anomaly affects your heart, it helps to know a little about how the heart works to supply your body with blood.

How your heart works

Your heart is made up of four chambers. The two upper chambers (atria) receive blood. The two lower chambers (ventricles) pump blood.

Four valves open and close to let blood flow in one direction through the heart. Each valve consists of two or three strong, thin flaps (leaflets) of tissue. When closed, a valve prevents blood from flowing to the next chamber or from returning to the previous chamber.

Oxygen-poor blood returns from your body and flows into the right atrium. Blood then flows through the tricuspid valve and into the right ventricle, which pumps the blood to your lungs to receive oxygen. On the other side of your heart, oxygen-rich blood from your lungs flows into the left atrium, through the mitral valve and into the left ventricle, which then pumps the blood to the rest of your body.

What happens in Ebstein's anomaly

In Ebstein's anomaly, the tricuspid valve sits lower than normal in the right ventricle. This makes it so that a portion of the right ventricle becomes part of the right atrium (becomes atrialized), causing the right atrium to be larger than usual. Because of this, the right ventricle can't work properly.

Also, the tricuspid valve's leaflets are abnormally formed. This can lead to blood leaking backward into the right atrium (tricuspid valve regurgitation).

The placement of the valve and how poorly it's formed may vary among people. Some people may have a mildly abnormal valve. Others may have a valve that is extremely displaced, and it may leak severely.

The more the tricuspid 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, which may lead to heart failure.

Other heart conditions associated with Ebstein's anomaly

Several other heart conditions may be associated with Ebstein's anomaly. A few common conditions include:

  • Holes in the heart. Many people with Ebstein's anomaly have a hole between the two upper chambers of the heart called an atrial septal defect or a small flap-like opening called a patent foramen ovale (PFO). A PFO is a hole between the upper heart chambers that is present in all babies before birth but usually closes after birth, although it may remain open in some people without causing issues.

    These holes may allow oxygen-poor blood in the right atrium to mix with oxygen-rich 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).

  • Abnormal heartbeats (arrhythmias). Some people with Ebstein's anomaly have an abnormal heart rhythm (arrhythmia) characterized by rapid heartbeats (tachycardia).

    These types of arrhythmias 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.
Ebstein's anomaly

Ebstein's anomaly is a rare heart defect in which the tricuspid valve — the valve between the upper right chamber (right atrium) and the lower right chamber (right ventricle) of the heart — doesn't work properly. As a result, blood leaks back through the valve and into the right atrium. Atrial septal defect (labeled patent foramen ovale) is a hole between the two upper chambers of the heart. About half the people with Ebstein's anomaly have an atrial septal defect.

Ebstein's anomaly

Ebstein's anomaly is a rare heart defect in which the tricuspid valve — the valve between the upper right chamber (right atrium) and the lower right chamber (right ventricle) of the heart — doesn't work properly. As a result, blood leaks back through the valve and into the right atrium. Atrial septal defect (labeled patent foramen ovale) is a hole between the two upper chambers of the heart. About half the people with Ebstein's anomaly have an atrial septal defect.

Risk factors

Congenital heart defects, such as 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. People with a family history of heart defects may be more likely to have Ebstein's anomaly. A mother's exposure to certain medications, such as lithium, may be associated with Ebstein's anomaly in the child.

Complications

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 certain competitive sports, such as football or basketball. Your doctor can help you decide which activities are right for you.

  • During pregnancy. In many cases, women with mild Ebstein's anomaly can safely have children. But pregnancy does have risks.

    If you plan on becoming pregnant, be sure to talk to your doctor 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. He or she may also suggest other treatments for your condition or symptoms before you become pregnant.

    Being pregnant puts additional strain on your heart and circulatory system not only during pregnancy, but also during labor and delivery. However, vaginal delivery may be possible. Rarely, severe complications can develop that can cause death to the mother or baby.

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

Diagnosis

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:

  • Echocardiogram. 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.

Treatment

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.

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 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.

Preparing for an appointment

If you or your child doesn't have any signs or symptoms of heart trouble, the doctor may suspect a problem only if he or she hears abnormal heart sounds during a routine exam.

Although many people have abnormal heart sounds, such as a heart murmur, they're usually not cause for concern. However, your doctor or your child's doctor will likely refer you to a doctor who specializes in treating heart conditions (cardiologist) to diagnose the cause of the abnormal heart sounds.

Because appointments can be brief, and there's often a lot to discuss, it's a good idea to arrive well-prepared. Here's some information to help you get ready for your appointment, and what to expect from your doctor.

What you can do

  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask if you need to do anything in advance, such as restrict your or your child's diet.
  • Write down any signs and symptoms you or your child is experiencing, including any that may seem unrelated to the reason for which you scheduled the appointment.
  • Make a list of any medications, vitamins or supplements that you or your child is taking.
  • Request that a copy of previous medical records be forwarded to your current doctor, if you're changing doctors.
  • Write down questions to ask the doctor.

Your time with the doctor is limited, so preparing a list of questions can help you make the most of your time together. For Ebstein's anomaly, some basic questions to ask your doctor include:

  • What's the most likely cause of my symptoms?
  • What kinds of tests do I need? Do these tests require any special preparation?
  • I feel OK; do I even need treatment?
  • What treatments are available, and which do you recommend?
  • What types of side effects can I expect from treatment?
  • Are there any alternatives to the primary approach that you're suggesting?
  • I have other health conditions. How can I best manage these conditions together?
  • Are there any activity restrictions that I or my child needs to follow?
  • Is there a generic alternative to the medicine you're prescribing me?
  • Are there any brochures or other printed material that I can take home with me?
  • Can you recommend any websites for more information on my condition?

In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask questions during your appointment at any time that you don't understand something.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:

  • When did you or your child first begin experiencing symptoms?
  • Have your symptoms been continuous or occasional?
  • Does anything seem to improve your symptoms?
  • What, if anything, appears to worsen your symptoms?
  • If you or your child has already been diagnosed with Ebstein's anomaly, when and where was the diagnosis made?
  • Has your child had any surgery or ever been hospitalized?
  • What medications are you or your child taking?

Last updated: November 17th, 2017

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