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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.
Cases of Ebstein’s anomaly range from mild to severe and there may not be any symptoms. When symptoms do occur, they can include:
Anyone who has ever been diagnosed with or treated for Ebstein’s anomaly should have lifelong care from a cardiologist who specializes in congenital heart defects. Ohio State's Wexner Medical Center provides this care from birth to adulthood. We partner with Nationwide Children’s Hospital to provide the resources necessary for the care of adult congenital cardiac patients through the Columbus Ohio Adult Congenital Heart Disease Program (COACH).
The COACH program focuses on:
We offer a team approach to CHD, which means each patient is evaluated by an ACHD specialist, and when appropriate, a cardiac surgeon, an imaging specialist and an interventional cardiologist with training in CHD. This integrated approach means that each patient’s disease is treated individually, with that particular patient’s needs, and physical condition, in mind.
Due to improvements in technology, some congenital heart defects can be detected before a baby is born. In other cases, severe heart defects are detected shortly after birth. Some cases of less severe disease may not be detected until childhood, late adolescence or even adulthood.
Tests used to diagnose Ebstein’s anomaly include:
Electrocardiogram (EKG/ECG) – A test that records the electrical activity of the heart
Echocardiogram (also called echo) – A test that uses sound waves to assess the function and structure of the heart muscle and valves
Chest X-ray – A radiograph or picture of the heart and lungs including blood vessels, ribs and bones of the spine
Cardiac MRI (cardiac magnetic resonance imaging or CMR) – A noninvasive, sophisticated imaging procedure that uses large magnets and a computer to produce detailed images of the structure and function of the heart while it is beating
Cardiac catheterization – A procedure to measure the pressures inside the heart and check for problems in the coronary arteries. A long, thin tube (catheter) is inserted into an artery or vein in the groin, arm or neck, and then threaded to the heart. The physician injects a contrast solution into the artery and takes X-rays to check for blockage and other abnormalities.
Medications may help relieve symptoms of Ebstein's anomaly, such as heart rhythm abnormalities and heart failure. Medications prescribed may include:
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.
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:
Heart transplantation may be necessary for severe cases of Ebstein's anomaly.
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