Definition

Ebstein’s anomaly is a rare heart defect. In a normal heart, the blood flows in from the body to the right atrium. It then goes into the right ventricle. Next, the blood travels to the lungs through the pulmonary valve. Here, it picks up fresh oxygen. The blood returns to the left atrium and goes into the left ventricle. The blood moves out to the rest of the body.

This defect occurs when the tricuspid valve develops lower than normal in the right ventricle. Also, the valve does not open and close normally. This allows blood to “leak” in the wrong direction. Ebstein’s anomaly can be mild to severe.

Heart Chambers and Valves Copyright © Nucleus Medical Media, Inc.

Blood Flow Through the Heart Copyright © Nucleus Medical Media, Inc.

Causes

This is a congenital defect. This means that the heart forms incorrectly when the baby is developing in the womb. The baby is born with the condition. It is not known why the heart develops this way in some babies.

Risk Factors    TOP

Specific risk factors for Ebstein’s anomaly are not clear. Two possible risk factors include:

• Genetic abnormalities
• Environmental exposure

Symptoms    TOP

Symptoms vary depending on how severe the defect is. In some cases, there may not be any symptoms. In other cases, symptoms may include:

• Swelling in the abdomen and legs
• Blue or pale skin color
• Palpitations or feeling of skipped beats
• Decreased energy
• Failure-to-thrive or gain weight
• Shortness of breath

During the exam, the doctor may detect a heart murmur.

These symptoms may be due to other conditions. If your child has any of these, talk to the doctor right away.

Diagnosis    TOP

The doctor will ask about your child’s symptoms and medical history. A physical exam will be done. Tests may include:

• Echocardiogram —an imaging test that uses sound waves to look at the size, shape, and motion of the heart
• Cardiac catheterization —a test that uses a catheter (tube) and x-ray machine to assess the heart and its blood supply
• Chest x-ray —an imaging test that uses low amounts of radiation to create an image of the chest
• MRI scan —a test that uses magnetic waves to make pictures of structures inside the chest
• CT scan —a type of x-ray that uses a computer to make pictures of structures inside the chest
• Electrocardiogram —a test that measures the electrical activity of the heart
• Other monitors (Halter or Event monitor) and tests (eg, stress test) to measure the heart’s rhythm and function

Treatment    TOP

Talk with the doctor about the best treatment plan for your child. Often, surgery is needed right away. Treatment options include:

Prevention    TOP

There is no way to prevent this condition. Getting appropriate prenatal care is always important.