In this rare heart defect, the tricuspid heart valve didn't form properly. This can affect the heart's ability to pump blood. Know the risks and symptoms.
Ebstein anomaly is a rare heart defect that's present at birth (congenital). In this condition, your tricuspid valve is in the wrong position and the valve's flaps (leaflets) are malformed. As a result, the valve does not work properly.
Blood might leak back through the valve, making your heart work less efficiently. Ebstein anomaly can also lead to enlargement of the heart and heart failure.
If you have no signs or symptoms associated with Ebstein anomaly, regular monitoring of your heart might be all you need. You might need treatment if signs and symptoms bother you or if your heart is enlarging or weakening. Treatment options include medications and surgery.
Ebstein anomaly is a rare congenital heart defect in which the tricuspid valve is incorrectly formed and positioned lower than usual in the heart. Atrial septal defect is a hole between the two upper chambers of the heart. About half the people with Ebstein anomaly have an atrial septal defect.
Mild forms of Ebstein anomaly might not cause symptoms until later in adulthood. Signs and symptoms might include:
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 if the skin around the lips and nails looks blue or you have swelling of your legs, talk to your doctor. He or she may refer you to a doctor who specializes in congenital heart disease (cardiologist).
Ebstein anomaly is a heart defect that you have at birth (congenital). The cause is unknown. To understand how Ebstein anomaly affects your heart, it helps to know how the heart works to supply your body with blood.
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. A closed valve prevents blood from flowing to the next chamber or from returning to the previous chamber.
Oxygen-poor blood from your body flows into the right atrium. Blood then flows through the tricuspid valve into the right ventricle, which pumps the blood to your lungs. 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.
The tricuspid valve normally sits between the two right heart chambers (right atrium and right ventricle).
In Ebstein 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, causing the right atrium to enlarge and not 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 location of the valve and how poorly it's formed varies from person to person. Some people have a mildly abnormal valve. Others have a valve that leaks severely.
Common associated heart conditions include:
Holes in the heart. Many people with Ebstein anomaly have a hole between the two upper chambers of the heart called an atrial septal defect or an opening called a patent foramen ovale (PFO). A PFO is a hole between the upper heart chambers that all babies have before birth that usually closes after birth. It can remain open in some people without causing issues.
These holes can decrease the amount of oxygen available in your blood, causing a bluish discoloration of the lips and skin (cyanosis).
A typical heart has two upper and two lower chambers. The upper chambers, the right and left atria, receive incoming blood. The lower chambers, the more muscular right and left ventricles, pump blood out of the heart. The heart valves, which keep blood flowing in the right direction, are gates at the chamber openings.
Congenital heart defects, such as Ebstein anomaly, occur as the baby's heart develops in the mother's womb.
Doctors aren't sure what risk factors are associated with the defect. Genetic and environmental factors are believed to play a role. A family history of heart defects or a mother's use of certain medications, such as lithium, during pregnancy might increase the risk of Ebstein anomaly in the child.
Mild Ebstein anomaly may not cause any complications.
However, possible complications of Ebstein anomaly include:
Taking a few precautions before playing sports or becoming pregnant may help prevent complications.
If your heart size is nearly normal and you have no heart rhythm disturbances, you can probably participate in most physical activities. Depending on your signs and symptoms, your doctor might recommend that you avoid certain competitive sports, such as football or basketball.
If you're planning on having a baby, talk to your doctor. Many women with mild Ebstein anomaly can safely have children. But pregnancy, labor and delivery put additional strain on your heart. Rarely, severe complications can develop that can cause death to mother or baby.
Together, you and your doctor can decide how much monitoring you need throughout pregnancy and childbirth. Sometimes, other treatments for your condition or symptoms may be recommended before you become pregnant.
If you or your child doesn't have signs or symptoms of heart trouble, the doctor might suspect a problem only after hearing abnormal heart sounds during a routine physical exam.
Abnormal heart sounds, such as a heart murmur, aren't usually 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 determine the cause.
Your doctor might recommend several tests, including:
Echocardiogram. This test uses sound waves to produce detailed images of your heart. It shows the structure of your tricuspid valve and the blood flow through your heart.
Sometimes, a transesophageal echocardiogram is done. This test uses a tube with a tiny sound device (transducer) inserted into the part of your digestive tract that runs from your throat to your stomach (esophagus). Because your esophagus lies close to your heart, this test can provide a detailed image of your heart.
Electrophysiology study (EP). To perform this test, the doctor threads thin, flexible tubes (catheters) tipped with electrodes through your blood vessels to areas within your heart to map your heart's electrical impulses.
In addition, your doctor can use the electrodes to stimulate your heart to beat at rates that may trigger — or halt — an arrhythmia. This can help your doctor determine if medications can help treat the arrhythmia.
Treatment of Ebstein 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.
If you have no signs or symptoms or abnormal heart rhythms, your doctor might recommend monitoring your heart condition with regular checkups.
Follow-up appointments generally include a physical exam and tests such as an electrocardiogram, echocardiogram, Holter monitor test and exercise stress test.
If you have heart rhythm disturbances, medications might help control your heart rate and maintain normal heart rhythm.
Your doctor might also prescribe medications to ease signs and symptoms of heart failure, such as drugs to prevent water retention (diuretics).
If you have certain heart rhythm problems or a hole (atrial septal defect) between the upper heart chambers, your doctor may prescribe medications to prevent blood clots.
Some babies are given an inhaled substance called nitric oxide to help improve blood flow to the lungs.
Your doctor might recommend surgery if your symptoms are affecting your quality of life. Surgery might also be recommended if your heart is enlarging and your heart function is decreasing. If you do need surgery, it's important to choose a surgeon who's familiar with the defect and who has training and experience performing procedures to correct it.
Several types of procedures can be used to surgically treat Ebstein anomaly and associated defects.
Tricuspid valve repair. Surgeons reduce the size of the valve opening and allow the valve leaflets to come together to work properly. A band might be placed around the valve to keep it in place. This procedure is usually done when there's enough valve tissue to allow repair.
A newer form of tricuspid valve repair is called 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."
Sometimes, your valve might need to be repaired again or replaced in the future.
Tricuspid valve replacement. If the valve can't be repaired, your surgeon might remove it and replace it with either a biological tissue (bioprosthetic) or mechanical valve. Mechanical valves aren't used often for tricuspid valve replacement.
If you have a mechanical valve, you'll need a blood thinner to prevent blood clots. If you have any type of artificial valve, you'll need to take medication to prevent an inflammation of the inner lining of your heart (endocarditis) before dental procedures.
Maze procedure. If you have fast heart rhythms, your surgeon may perform the Maze procedure during valve repair or replacement surgery. 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 interrupts the stray heart signals that cause some types of arrhythmias. Extreme cold (cryotherapy) or heat (radiofrequency) energy also can be used to create the scars.
Radiofrequency catheter ablation. If you have fast or abnormal heart rhythms, your doctor might perform this procedure. Your doctor threads one or more catheters through your blood vessels to your heart.
Sensors at the tips of the catheters use heat (radiofrequency energy) to damage (ablate) a small area of heart tissue. This blocks the abnormal signals that are causing your arrhythmia. Some people may need repeat procedures.
If you or your child has mild Ebstein anomaly, here's what you can do to manage symptoms and improve comfort.
Your primary care doctor may refer you to a doctor who specializes in treating heart conditions (cardiologist). Here's some information to help you get ready for your appointment.
When you make the doctor's appointment, be sure to ask if you need to do anything in advance, such as restrict your or your child's diet.
Write down the following information and take it with you to the appointment:
If you're seeing a new doctor, request that a copy of medical records be sent to the new office.
For Ebstein anomaly, specific questions to ask your doctor include:
Don't hesitate to ask other questions.
Your doctor is likely to ask you questions, such as: