Uhl's anomaly: a comprehensive review of pathophysiology, clinical manifestations, diagnostic approaches, and therapeutic strategies

Abstract

Uhl's anomaly, a rare congenital cardiac disorder characterized by the absence or severe thinning of the right ventricular myocardium, presents significant challenges in diagnosis and management. This review aims to provide an exhaustive overview of the current understanding of Uhl's anomaly, encompassing its pathophysiology, clinical manifestations, diagnostic approaches, and therapeutic strategies. We delve into the embryological underpinnings and genetic predispositions associated with this condition, highlighting recent advancements in molecular and imaging techniques that facilitate early and accurate diagnosis. Furthermore, we discuss the clinical course, symptomatic presentation, and potential complications, offering insights into the prognostic factors that influence outcomes. Treatment modalities, including pharmacological management, interventional procedures, and surgical options, are evaluated based on contemporary evidence and expert consensus. Through this comprehensive review, we seek to enhance awareness and understanding of Uhl's anomaly among clinicians and researchers, ultimately contributing to improved patient care and outcomes.