Abstract
Endocardial fibroelastosis (EFE) is a rare and enigmatic myocardial disease characterized by the abnormal accumulation of collagen and elastin fibers in the endocardium, predominantly affecting the left ventricle. This comprehensive review aims to elucidate the pathogenesis, clinical manifestations, diagnostic modalities, and management strategies of EFE. EFE typically presents in infants and young children, although adult cases have been reported. The etiology of EFE remains elusive, with theories implicating genetic, infectious, and autoimmune factors. Clinically, EFE may manifest with symptoms of heart failure, arrhythmias, or sudden cardiac death. Diagnosis often involves echocardiography, cardiac magnetic resonance imaging, and endomyocardial biopsy. Management strategies for EFE are primarily supportive, focusing on the management of heart failure symptoms and arrhythmias, with advanced cases necessitating heart transplantation. This review provides a comprehensive overview of EFE, highlighting the challenges in diagnosis and management and underscoring the need for further research to elucidate its pathogenesis and improve outcomes.
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