Ebstein Anomaly: Imaging, Pathophysiology, and Therapeutics

Ebstein anomaly is a rare congenital malformation defined by failed delamination and apical displacement of the tricuspid valve, which produces an atrialized segment of the right ventricle and variable right ventricular dysfunction. Its clinical expression is wide, ranging from severe neonatal cyanosis and heart failure, which carry high perinatal mortality, to incidental detection in adulthood. Because anatomy and physiology vary widely among patients, imaging is central to diagnosis, risk stratification, and treatment planning. Transthoracic echocardiography remains the first-line study and establishes the diagnosis through apical leaflet displacement, leaflet tethering, and right atrial dilation; three-dimensional and transesophageal echocardiography refine the assessment of leaflet morphology and the atrialized right ventricle. Cardiac magnetic resonance imaging quantifies right ventricular and right atrial volumes, ejection fraction, regurgitant volume, and myocardial fibrosis, and increasingly informs the timing of surgery; computed tomography is a complement when magnetic resonance is contraindicated or extracardiac anatomy must be defined. Management is guided by current European and North American congenital heart disease guidelines and is matched to symptom burden and anatomy. Transplacental non-steroidal anti-inflammatory drugs may relieve the circular shunt in selected fetuses. Cone reconstruction has become the preferred surgical repair, with valve replacement reserved for valves deemed unsuitable. Catheter-based options, including device closure of interatrial communications, accessory-pathway ablation, and transcatheter tricuspid valve-in-valve implantation, address specific problems in higher-risk patients, although dedicated transcatheter replacement remains investigational in this population. Long-term care depends on serial imaging to detect residual regurgitation, progressive ventricular dysfunction, and arrhythmia. This review summarizes the anatomy, pathophysiology, multimodality imaging, and contemporary therapy of Ebstein anomaly, with emphasis on how imaging findings translate into clinical decisions.