Ebstein’s anomaly is a rare congenital heart defect of the tricuspid valve of the heart. The tricuspid valve separates the right upper chamber (the atrium) which takes in deoxygenated blood full of carbon dioxide, from the right lower chamber (ventricle), which pumps blood that is low in oxygen into the lungs.
In Ebstein’s anomaly the valve is in the wrong place and a flap (leaflet) is deformed. This can cause blood to leak in the wrong direction back through the valve, which means the heart does not work we well as it should. This can result in the right atrium becoming larger than normal and, in some cases, congestive heart failure can occur.
Generally, the earlier the disease is diagnosed, the more severe the condition. People with Ebstein’s anomaly have an average life expectancy at birth of 25 to 30 years.
In some people, Ebstein’s anomaly is not diagnosed until adulthood, and people who have the mildest form of Ebstein’s anomaly may not have any problems.
Anyone who has Ebstein’s anomaly will need lifelong care from congenital heart experts and many will need treatment for heart rhythm problems.
What Are Symptoms of Ebstein’s Anomaly?
Symptoms of Ebstein’s anomaly can range from very mild to very severe and many patients with mild cases do not have any symptoms.
In those with mild symptoms, the first symptom that often leads to a diagnosis is a heart murmur.
12 Symptoms of Ebstein’s Anomaly
In babies and children with Ebstein’s anomaly, the condition is usually more serious and symptoms may include:
- Blue color to the skin (cyanosis)
- Fast heartbeat
- Feeling as if the heart “skips” a beat
- Abnormal heartbeats
- Tiring more easily than other children
- Shortness of breath
- Failure to grow
- Rapid breathing
- Chest pain may be the first symptom
Severely affected babies may be critically ill at birth and often need immediate intensive care.
What Causes Ebstein’s Anomaly?
Ebstein’s anomaly is congenital, which means it is present at birth. The tricuspid valve in the heart does not develop normally during the first eight weeks of fetal growth. The reason this occurs is unknown.
It’s also not known if certain risk factors could cause the defect. Risk factors that may play a role include:
- Genetic factors
- A family history of heart defects
- Environmental factors
- The mother’s exposure to certain medications, such as lithium
How Is Ebstein’s Anomaly Diagnosed?
If Epstein’s anomaly is suspected, tests used to confirm a diagnosis may include:
- Chest X-ray
- To see if the heart is enlarged
- Echocardiogram (“echo”)
- Helps determine the extent of the malformation of the valve and any other heart defects that may be present
- Electrocardiogram (ECG)
- Records the heart's rhythm
- Exercise stress test
- To check heart function during activity
- Cardiac catheterization (“cardiac cath”)
- To look at heart anatomy and function
What Is the Treatment for Ebstein’s Anomaly?
Medical treatment for Ebstein’s anomaly is usually only needed for children with congestive heart failure or abnormal heart rhythms. People who have mild defects may not need treatment.
In cases where treatment is needed, surgery may be performed, including:
- Surgical repair or replacement of the tricuspid valve
- Closure of the foramen ovale or atrial septal defect
- Procedures in the cardiac cath lab may to help correct problems with fast heart rates
What Are Complications of Ebstein’s Anomaly?
Complications of Ebstein’s anomaly may include:
- Abnormal heart rhythms (arrhythmias)
- Blood clots from the heart to other parts of the body
- Brain abscess
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