Ebsteinanomália

Ebsteinanomália is a rare congenital heart defect that affects the tricuspid valve, one of the four valves in the heart. In this condition, the tricuspid valve is displaced downwards into the right ventricle, and the valve leaflets are malformed. This abnormal positioning and structure cause the valve to leak, allowing blood to flow backward from the right ventricle into the right atrium.

The severity of Ebsteinanomália can vary significantly. In mild cases, individuals may have few or no symptoms and lead normal lives. However, in more severe forms, the leaking tricuspid valve can lead to an enlarged right atrium, a poorly functioning right ventricle, and reduced oxygenated blood flow to the body. Symptoms can include shortness of breath, fatigue, heart palpitations, and cyanosis (a bluish tint to the skin). Some individuals may also develop arrhythmias, such as Wolff-Parkinson-White syndrome.

Diagnosis typically involves a physical examination, electrocardiogram (ECG), echocardiogram, and sometimes cardiac MRI or catheterization to assess the heart's structure and function. Treatment depends on the severity of the condition. Mild cases may not require intervention. For more significant symptoms or valve dysfunction, treatment options can include medications to manage heart rhythm and fluid buildup, or surgical repair or replacement of the tricuspid valve. In some instances, a Fontan procedure might be considered for very severe cases. The long-term outlook for individuals with Ebsteinanomália varies depending on the extent of the defect and the success of any interventions.