Type of disease: Rare conditions
Ebstein’s anomaly is a rare heart defect present at birth (congenital). In people with Ebstein’s anomaly, the tricuspid valve, which separates the two right chambers in the heart, is malformed. Normally, the tricuspid valve lets blood flow from the right atrium (upper chamber) to the right ventricle (lower chamber). In Ebstein’s anomaly, the valve is lower than it should be and allows blood to leak back into the atrium. This forces the heart to work harder, and can lead to heart enlargement or failure. Ebstein’s anomaly may be associated with atrial septal defects, heart arrhythmias and Wolff-Parkinson-White syndrome.
Symptoms may include shortness of breath, fatigue, heart palpitations (arrhythmias), or bluish skin or lips (cyanosis). Some people with Ebstein’s abnormality do not develop any severe symptoms, and many will not develop symptoms until later in adulthood. The causes of the anomaly are not yet known, but is believed to be caused by both genetic and environmental factors. People with a family history of heart defects or have heart defects themselves may be more likely to have a baby with Ebstein’s anomaly. A mother’s exposure to medications containing large amounts of lithium or benzodiazepines may also increase the risk for her baby.
Chest X-rays, ultrasounds, MRIs, or EKGs may be performed to diagnose Ebstein’s anomaly. All of these tests will allow a cardiologist to get a clearer picture of the heart. Treatments vary depending on the severity of the anomaly and the symptoms. Treatments can include regular monitoring, medications, surgery, or, in very severe cases, a heart transplant. If you or a loved one has been diagnosed with Ebstein’s anomaly, talk to a cardiologist (a heart doctor) about the most current treatment options. Support organizations and genetic counselors are also good sources of information and can help connect you with others affected by congenital heart conditions.