What is Ebstein’s anomaly?

Ebstein’s anomaly is a rare congenital heart defect of the tricuspid valve (one of the four heart valves that allow blood to flow from the right atrium, or top chamber, into the right ventricle, or bottom chamber of the heart) that occurs during fetal development. This defect can lead to heart enlargement or heart failure. When the defect is diagnosed in an infant, it is usually a severe case of cyanosis (bluish coloration of the skin due to low oxygen levels in the blood).

In many cases, there also is a hole (atrial septal defect) in the wall between the two upper chambers of the heart. As a result, the heart functions inefficiently. The precise cause is unknown, but genetics may play a role.

Symptoms

Cases of Ebstein’s anomaly range from mild to severe and there may not be any symptoms. When symptoms do occur, they can include:

  • Shortness of breath
  • Fatigue
  • Swelling in the legs
  • Heart palpitations
  • Bluish skin coloration from low oxygen levels

Diagnosis

At Ohio State, we ensure that each patient receives individualized care for their congenital heart defect. By creating a care team to diagnose and treat each case, we can better understand what steps will help patients get back to living their lives.

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Treatments

Medications

Medications may help relieve symptoms of Ebstein's anomaly, such as heart rhythm abnormalities and heart failure. Medications prescribed may include:

Nonsurgical procedures

Radiofrequency catheter ablation is a minimally invasive procedure that can help to treat the heart rhythm problems associated with Ebstein's anomaly, in some cases.

Surgical procedures

Adults who have this condition often do not need surgery but your physician may recommend it if your symptoms become problematic. The defective valve cannot be made normal with repair, but it can be treated to improve symptoms. Surgical procedures include:

  • Tricuspid valve repair
  • Tricuspid valve replacement
  • Closure of the atrial septal defect

Heart transplantation may be necessary for severe cases of Ebstein's anomaly. 

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