Ebstein's Anomaly

Cardiology / Pediatrics

Overview

Definition

A rare congenital heart defect characterized by the downward displacement of the septal and posterior leaflets of the tricuspid valve into the right ventricle.

Epidemiology

Occurs in ~1 in 200,000 live births. Strongly associated with maternal Lithium use in pregnancy.

Etiology & Risk Factors

  • Failure of proper delamination of the tricuspid valve leaflets during embryonic development

Clinical Symptoms

  • Cyanosis
  • Right-sided heart failure (hepatomegaly, ascites, edema)
  • Arrhythmias (SVT, associated with WPW syndrome)
  • Fatigue on exertion

Clinical Approach

Diagnosis

  • Echocardiogram showing atrialization of the right ventricle and severe tricuspid regurgitation

Management

  • Tricuspid valve repair or replacement
  • Treatment of heart failure and control of tachyarrhythmias

Complications

  • Right Heart Failure
  • Paradoxical embolization / Stroke
  • Atrial Fibrillation
  • Sudden Death