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Ebstein anomaly is a rare congenital heart defect that primarily affects the tricuspid valve, which separates the right atrium from the right ventricle. In this condition, the valve is abnormally formed and positioned lower than normal, leading to improper closure. As a result, blood leaks backward into the atrium, causing inefficient circulation and increased strain on the heart.

This defect often results in an enlarged right atrium and a smaller, less effective right ventricle. Symptoms vary widely depending on severity. Some individuals may experience cyanosis (bluish skin due to low oxygen), shortness of breath, fatigue, or palpitations caused by arrhythmias. In mild cases, symptoms may not appear until adulthood, while severe cases can present in infancy.

Diagnosis typically involves echocardiography, MRI, or electrocardiograms to assess valve structure and heart function. Treatment options depend on severity and range from medications to manage arrhythmias and heart failure to surgical repair or replacement of the tricuspid valve. In extreme cases, heart transplantation may be necessary.

Though rare, advances in surgical techniques and medical management have significantly improved outcomes for patients with Ebstein anomaly, allowing many to lead active, fulfilling lives.