Ebstein Anomaly: Imaging, Pathophysiology, and Therapeutics

Area of Science:

• Cardiology
• Congenital Heart Disease
• Medical Imaging

Background:

• Ebstein anomaly is a rare congenital heart malformation characterized by tricuspid valve displacement and atrialized right ventricle.
• Clinical presentation varies widely, from severe neonatal heart failure to incidental adult diagnosis.

Purpose of the Study:

• To review the anatomy, pathophysiology, multimodality imaging, and contemporary therapy of Ebstein anomaly.
• To emphasize how imaging findings guide clinical decisions in Ebstein anomaly management.

Main Methods:

• Transthoracic echocardiography as the first-line diagnostic tool.
• 3D and transesophageal echocardiography for refined leaflet and atrialized ventricle assessment.
• Cardiac MRI for quantitative analysis of ventricular volumes, function, and fibrosis; CT as a complementary tool.

Main Results:

• Imaging is central to diagnosis, risk stratification, and treatment planning in Ebstein anomaly.
• Multimodality imaging (echocardiography, MRI, CT) provides comprehensive anatomical and functional assessment.
• Management is guided by guidelines, symptom burden, and imaging findings, with cone reconstruction as preferred surgical repair.

Conclusions:

• Multimodality imaging is essential for comprehensive evaluation and management of Ebstein anomaly.
• Contemporary management involves a combination of medical, surgical (cone reconstruction), and catheter-based interventions.
• Long-term care requires serial imaging to monitor for complications like regurgitation, dysfunction, and arrhythmia.