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:
When to see a doctor
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
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 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. In severe cases, the leaflets may be tethered to the wall of the heart, leading to severe leakage of blood into the 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
Chambers and the valves of the heart
A normal 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 ...
Ebstein's anomaly is a rare heart defect in which the tricuspid valve — the valve between the upper right chamber (right atrium, labeled RA) and the lower right chamber (right ventricle, ...
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:
Other complications that may result from Ebstein's anomaly include heart failure, heart rhythm problems and, less commonly, sudden cardiac arrest or stroke.
Preparing for your appointment
If you or your child hasn't been experiencing any signs or symptoms of heart trouble, the doctor may only suspect a problem 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 pediatrician 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
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:
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
Tests and diagnosis
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:
Treatments and drugs
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:
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
Radiofrequency catheter ablation
Coping and support
If you or your child has mild Ebstein's anomaly, here are some steps that may help you cope:
Last Updated: 2010-10-28
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