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 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.
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
- 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 heart disease (cardiologist).
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 top two chambers are called the right and left atria ("atria" is plural for "atrium"). The two lower chambers, the ventricles, are larger, thicker walled chambers that do the work of pumping blood. Separating the atria from the ventricles are valves, which keep the blood flowing in the right 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.
Blood returning from your body, which lacks oxygen, flows into the right atrium, through the tricuspid valve and then 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 then 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 is farther down into the right ventricle than it would be in a normal heart. 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.
In addition to the problems with the placement of the tricuspid valve, the valve's leaflets are abnormally formed. This can lead to blood leaking backward (regurgitating) into the right atrium.
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 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.
Other heart conditions associated with Ebstein's anomaly
Other heart conditions may be associated with Ebstein's anomaly. Three common conditions are:
- Atrial septal defect. About half of those 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).
- 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.
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 or benzodiazepines, has been associated with Ebstein's anomaly in the child.
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 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.
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.
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 of ground to cover, 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?
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 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.
- 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.
- Cardiac MRI. In a cardiac MRI, you lie on a table inside a long tube-like machine that produces detailed images of your heart's structure.
- 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.
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:
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.
If you have heart rhythm disturbances, medications may help control heart rate and maintain normal heart rhythm.
Your doctor may also prescribe medications for signs and symptoms of heart failure, if you need them. These may include drugs that prevent water retention (diuretics) and other medications.
Surgical heart repair
Your doctor may recommend surgical repair when your signs and symptoms are affecting your quality of life or when your heart begins to enlarge and overall heart function begins to decrease. Having surgery at a younger age may lead to better outcomes. 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.
A newer technique for the repair of Ebstein's anomaly, called the cone procedure, uses the existing leaflets to form a cone that works like a valve.
- 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 a hole is present between the two upper champers of the heart (ASD), 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. However, this procedure may be less effective for treating people with Ebstein's anomaly than for those with other heart problems. Repeat procedures may be necessary.
If you have severe Ebstein's anomaly and poor heart function, a heart transplant may be necessary.
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 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.
Experience. Mayo Clinic doctors trained in treating children with heart conditions (pediatric cardiologists), doctors trained in heart disease (cardiologists) and doctors trained in heart surgery (cardiovascular surgeons) have extensive experience treating people with Ebstein's anomaly and other congenital heart diseases. Mayo doctors evaluate and treat more than 170 people each year with Ebstein's anomaly.
Doctors who evaluate and treat Ebstein's anomaly are specifically trained in treating congenital heart disease in adults and congenital heart defects in children.
Treatment expertise. Mayo doctors trained in pediatric cardiology, adult congenital heart disease, congenital cardiovascular surgery and other areas work together in the Center for Congenital Heart Disease at Mayo Clinic's campus in Minnesota to treat adults and children with Ebstein's anomaly and other congenital heart diseases. The Center for Congenital Heart Disease is an international referral center for people with Ebstein's anomaly.
Doctors at Mayo Clinic's campuses in Arizona and Florida also evaluate adults with Ebstein's anomaly and other congenital heart diseases.
Surgical experience and expertise. Cardiovascular surgeons at Mayo Clinic's campus in Minnesota have extensive experience and expertise treating Ebstein's anomaly and other congenital heart diseases with the latest surgical techniques.
Mayo Clinic cardiovascular surgeons have been at the forefront of developing and implementing surgical repair for Ebstein's anomaly for decades. The entire team of cardiac surgeons, anesthesiologists and nurses has extensive experience in the surgical and postoperative care of people with Ebstein's anomaly.
- Collaboration. Mayo Clinic pediatric and adult congenital cardiologists, cardiovascular surgeons and others trained in treating congenital heart disease collaborate as a multidisciplinary team to provide coordinated care.
Mayo Clinic in Rochester, Minn., is ranked among the Best Hospitals for heart and heart surgery by U.S. News & World Report. Mayo Clinic also ranks among the Best Children's Hospitals for heart and heart surgery.
At Mayo Clinic, we assemble a team of specialists who take the time to listen and thoroughly understand your health issues and concerns. We tailor the care you receive to your personal health care needs. You can trust our specialists to collaborate and offer you the best possible outcomes, safety and service.
Mayo Clinic is a not-for-profit medical institution that reinvests all earnings into improving medical practice, research and education. We're constantly involved in innovation and medical research, finding solutions to improve your care and quality of life. Your doctor or someone on your medical team is likely involved in research related to your condition.
Our patients tell us that the quality of their interactions, our attention to detail and the efficiency of their visits mean health care — and trusted answers — like they've never experienced.
Why Choose Mayo Clinic
What Sets Mayo Clinic Apart
Mayo Clinic doctors trained in heart disease (cardiologists) work with other doctors to accurately evaluate and manage Ebstein's anomaly and other congenital heart diseases.
Tests to diagnose Ebstein's anomaly may include:
Mayo Clinic doctors trained in heart disease (cardiologists), cardiovascular surgeons and other doctors with experience in treating people with all types of congenital heart disease work with you to determine the most appropriate treatment for your condition. Mayo doctors have extensive experience treating Ebstein's anomaly.
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. Your treatment may include monitoring, medications or surgery.
Mayo cardiovascular surgeons have extensive experience and expertise in performing surgery to treat Ebstein's anomaly and other congenital heart diseases with the latest surgical techniques. Your doctor may recommend surgery when your signs and symptoms are affecting your quality of life or even if you aren't experiencing symptoms when your heart begins to enlarge and overall heart function begins to decrease.
In tricuspid valve repair, your surgeon reduces the size of the valve opening and allows 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.
Mayo Clinic surgeons perform cone repair, a newer form of tricuspid valve repair. 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."
If the existing valve can't be repaired, your surgeon may perform heart valve surgery to replace the tricuspid valve. In tricuspid valve replacement, your surgeon replaces the valve by removing the deformed valve and inserting a biological tissue (bioprosthetic) valve. Mechanical valves are rarely used to treat Ebstein's anomaly.
If a hole is present between the two upper chambers of the heart (atrial septal defect), your surgeon can close the hole during surgery while repairing or replacing the defective valve.
If you have fast heart rhythms, your surgeon may perform the maze procedure during valve repair or replacement to correct the fast heart rhythms. In this procedure, a 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 be used to create the scars.
If you have severe Ebstein's anomaly and poor heart function, your doctor may consider heart transplantation.
Mayo Clinic works with hundreds of insurance companies and is an in-network provider for millions of people. In most cases, Mayo Clinic doesn't require a physician referral. Some insurers require referrals or may have additional requirements for certain medical care. All appointments are prioritized on the basis of medical need.
Doctors in cardiovascular diseases, cardiovascular and thoracic surgery, and the Adult Congenital Heart Disease Program at Mayo Clinic's campus in Arizona care for adults with Ebstein's anomaly and other forms of congenital heart disease.
For appointments or more information, call the Central Appointment Office at 800-446-2279 (toll-free) 8 a.m. to 5 p.m. Mountain Standard Time, Monday through Friday or complete an online appointment request form.
- U.S. Patients
- International Patients
Doctors in cardiovascular diseases, cardiothoracic surgery, and the Adult Congenital Heart Disease and Marfan Syndrome Clinic at Mayo Clinic's campus in Florida care for adults with Ebstein's anomaly and other forms of congenital heart disease.
For appointments or more information, call the Central Appointment Office at 904-953-0853 8 a.m. to 5 p.m. Eastern time, Monday through Friday or complete an online appointment request form.
- U.S. Patients
- International Patients
Doctors trained in pediatric cardiology, cardiovascular diseases, cardiovascular surgery and other areas work together in the Center for Congenital Heart Disease at Mayo Clinic's campus in Minnesota to care for adults and children with Ebstein's anomaly.
For appointments or more information, call the Division of Cardiovascular Diseases at 507-284-3994 from 8 a.m. to 5 p.m. Central time, Monday through Friday, or the Division of Cardiovascular Surgery at 866-827-8810 (toll-free) from 8 a.m. to 5 p.m. Central time Monday through Friday, or complete an online appointment request form.
No referral from a doctor is necessary. Cardiologists generally can see most people within two weeks after their appointment requests, and often cardiologists can see people within a week or less after the appointment request. People with urgent issues can usually be seen within 24 hours after their requests. In emergencies, people are directly transferred to inpatient hospital care.
- U.S. Patients
- International Patients
Doctors trained in treating children with heart disease (pediatric cardiologists), cardiovascular surgery and other areas work together in the Center for Congenital Heart Disease at Mayo Clinic's campus in Minnesota to care for children with Ebstein's anomaly and other congenital heart diseases.
Children with congenital heart disease are cared for in the Mayo Clinic Children's Center at Mayo Clinic's campus in Minnesota.
For appointments or more information, call the Division of Pediatric Cardiology at 507-284-9969 from 8 a.m. to 5 p.m. Central time, Monday through Friday, or Cardiovascular Surgery at 866-827-8810 (toll-free) from 8 a.m. to 5 p.m. Central time, Monday through Friday, or complete an online appointment request form.
- U.S. Patients
- International Patients
See information on patient services at the three Mayo Clinic locations, including transportation options and lodging.
Mayo Clinic researchers actively study new diagnostic procedures and treatments for people with congenital heart diseases, including Ebstein's anomaly. Read more about research in the Cardiovascular Research Center.
See a list of publications by Mayo Clinic doctors on Ebstein's anomaly on PubMed, a service of the National Library of Medicine.
Sept. 17, 2014
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- Cook AJ. Decision Support System. Mayo Clinic, Rochester, Minn. April 3, 2014.
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- Anderson HN, et al. Cone reconstruction in children with Ebstein anomaly: the Mayo Clinic experience. Congenital Heart Disease. 2014;9:266.
- Boston US, et al. Tricuspid valve repair for Ebstein's anomaly in young children: a 30-year experience. The Annals of Thoracic Surgery. 2006;81:690.
- Brown ML, et al. The outcomes of operations for 539 patients with Ebstein anomaly. The Journal of Thoracic and Cardiovascular Surgery. 2008;135:1120.
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- Raju V, et al. Right ventricular unloading for heart failure related to Ebstein malformation. The Annals of Thoracic Surgery. 2014;98:167.