Endocardial Fibroelastosis: A Comprehensive Review

Abstract

Endocardial fibroelastosis emerged as a challenging clinical phenomenon in the 1940s. It is characterized by an atypical proliferation of fibrous and elastic tissue within the heart and is primarily observed in childhood, occasionally displaying familial inheritance. While the precise cause remains elusive, various factors, including genetic, infectious, metabolic, autoimmune, oncologic, and medication-related influences, appear to play a role in its pathogenesis. The coexistence of endocardial fibroelastosis with multiple cardiac structural abnormalities manifests in symptoms of congestive heart failure and rhythm abnormalities. Despite its challenging diagnosis, various findings from ECG and imaging have proven beneficial in further evaluation of this condition. Finally, the treatment approach to endocardial fibroelastosis became complex due to addressing its concurrent cardiac abnormalities. Strategies for managing and preventing this condition are still under investigation. In this review, we intend to highlight the existing knowledge and illuminate future considerations regarding the etiology, diagnosis, and management of this disease.