Ebstein anomaly

Ebstein anomaly is a rare heart defect that is present at birth (congenital). It primarily affects the tricuspid valve, one of the heart's four valves, which prevents blood from flowing back into the right upper heart chamber (atrium) from the right lower heart chamber (ventricle).

Symptoms

Symptoms of Ebstein anomaly can vary from none to severe and may include:

• Shortness of breath (dyspnea) especially during exercise
• Fatigue, especially during physical exertion
• Heart palpitations or abnormal heart rhythms (arrhythmias)
• A bluish color to the lips and skin caused by low oxygen (cyanosis)

Causes

Ebstein anomaly is a congenital heart defect, meaning it's present at birth. The cause is generally unknown. It's thought to result from improper development of the heart during the early weeks of pregnancy. While certain factors, such as genetics, might increase the risk of congenital heart defects, a clear cause is often not found.

Diagnosis

Ebstein anomaly may be detected by ultrasound during pregnancy. After birth, the doctor may suspect a heart defect if a heart murmur is heard. Further tests might include:

• Echocardiogram
• Electrocardiogram (ECG)
• Cardiac MRI
• Chest X-ray

Treatment

Treatment for Ebstein anomaly depends on the severity of the defect and the symptoms. Treatments might include:

• Medications to manage symptoms
• Heart surgery to repair the valve
• Heart transplant in severe cases

Prognosis

The outlook for people with Ebstein anomaly varies. Some people can lead normal lives with few symptoms. Others may have significant disability. Early diagnosis and appropriate treatment can improve the outlook.

See also

• Congenital heart defect
• Tricuspid valve
• Heart surgery
• Heart transplant

Ebstein anomaly Resources
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