Ebstein malformation of the tricuspid valve

Ebstein malformation of the tricuspid valve (also known as Ebstein anomaly or Ebstein's anomaly) is a rare congenital heart defect in which the tricuspid valve — the valve separating the right atrium from the right ventricle — is abnormally formed and displaced downward into the right ventricle. This displacement causes a portion of the right ventricle to become 'atrialized' (functionally part of the atrium), resulting in a smaller, less effective right ventricle and varying degrees of tricuspid valve regurgitation (leaking). The condition primarily affects the cardiovascular system and can be associated with an atrial septal defect or patent foramen ovale, which may allow right-to-left shunting of blood and lead to cyanosis (bluish discoloration of the skin due to low oxygen levels). The clinical presentation of Ebstein anomaly is highly variable, ranging from severe heart failure in neonates to mild symptoms discovered incidentally in adulthood. Key symptoms may include cyanosis, fatigue, exercise intolerance, shortness of breath, palpitations, and signs of right-sided heart failure such as peripheral edema and hepatomegaly. Cardiac arrhythmias are common, particularly supraventricular tachycardias, and some patients have accessory conduction pathways (Wolff-Parkinson-White syndrome). The condition is also associated with other congenital heart defects, including pulmonary stenosis or atresia. Management depends on the severity of the malformation. Mildly affected individuals may require only monitoring and medical management of arrhythmias and heart failure symptoms. More severely affected patients may require surgical intervention, including tricuspid valve repair (such as the cone reconstruction technique), tricuspid valve replacement, closure of atrial septal defects, or catheter ablation for arrhythmias. In the most severe neonatal cases, complex surgical strategies or even heart transplantation may be considered. Prognosis varies widely based on the degree of valve displacement and associated anomalies, but advances in surgical techniques have significantly improved outcomes for many patients.

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