Ebstein's anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced towards the apex of the right ventricle of the heart. Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The tricuspid valve separates the right lower heart chamber (right ventricle) from the right upper heart chamber (right atrium). In Ebstein anomaly, the positioning of the tricuspid valve and how it functions to separate the 2 chambers is abnormal. The condition is congenital, which means it is present at birth. Ebstein anomaly is an abnormality in the tricuspid valve. The tricuspid valve separates the right atrium (the chamber that receives blood from the body) from the right ventricle (the chamber that pumps blood to the lungs). In Ebstein anomaly, two leaflets of the tricuspid valve are displaced downward into the pumping chamber.
The third leaflet is elongated and may be tethered to the wall of the chamber. Rarely, the valve is so deformed that it will not allow blood to flow easily in the normal direction (right atrium to right ventricle). More commonly, these abnormalities cause the tricuspid valve to leak blood backwards into the right atrium when the right ventricle contracts. As a result, the right atrium becomes enlarged. If the tricuspid regurgitation (leak) is severe enough, congestive heart failure can result. Some babies and children have bluish discoloration to their lips and nail beds (cyanosis), due to the flow of blood from the right atrium to the left atrium. Children may complain that their heart races, skips a beat, “beats funny” or "hiccoughs." They may tire more easily than other children or become short of breath, particularly during play. In adolescents and young adults, the sensation of "heart skipping" (palpitations) or fast heart rate, shortness of breath, and chest pain may be the first symptoms.
Growth and development are usually normal in patients with Ebstein anomaly. Mild forms of Ebstein's anomaly may not cause symptoms until later in adulthood. If signs and symptoms are present, they may include Shortness of breath, especially with exertion Fatigue Heart palpitations or abnormal heart rhythms (arrhythmias) A bluish discoloration of the lips and skin caused by low oxygen (cyanosis) 1. Epidemiology and Statistics: True prevalence is unknown because mild forms frequently are undiagnosed. Currently, with wide application of echocardiography, more cases are being diagnosed. Ebstein anomaly probably accounts for 0.5% of cases of congenital heart diseases.