Beyond cyanosis: paradoxical cerebral embolism in a pediatric patient with Ebstein's anomaly: A case report.

Abstract

Introduction: 

Ebstein's anomaly is a rare congenital heart disease characterized by apical displacement of the tricuspid valve leaflets, accounting for approximately 0.5% of congenital cardiac defects. Associated intracardiac shunts may create a pathway for paradoxical embolism, an infrequently documented cause of arterial ischemia, particularly cerebral infarction.

Case Presentation: 

This case report documents a 3-year, 7-month-old female with no significant prior history who presented with acute-onset seizures and right-sided spastic hemiparesis. Echocardiography confirmed Ebstein's anomaly with severe tricuspid regurgitation, atrialization of the right ventricle, and a ventricular septal defect. Brain CT demonstrated multiple infarcts within the left middle cerebral artery territory. In the absence of other embolic sources, paradoxical embolism through a right-to-left shunt was deemed the causative mechanism.

Conclusion: 

Symptomatic paradoxical embolism is exceedingly rare in early childhood and may represent the initial manifestation of undiagnosed congenital heart disease. This case highlights the critical role of echocardiography in identifying the underlying cardiac anomaly and emphasizes the importance of considering paradoxical embolism in young patients presenting with cryptogenic stroke.

Take-away lessons: 

Echocardiography is indispensable in pediatric cryptogenic stroke to exclude right-to-left shunts. Paradoxical embolism should be considered even in the absence of clinically evident venous thrombosis. Early recognition of structural heart disease in acute neurological presentations can prevent recurrent embolic events.