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Endocardial fibroelastosis in infants and young children: a state-of-the-art review

Khalifah A Aldawsari1,2, Abdullah N Alhuzaimi3,4, Mohammad T Alotaibi5

  • 1Department of Pediatrics, Nicklaus Children's Hospital, Miami, FL, USA. Khalifah.aldawsari@gmail.com.

Heart Failure Reviews
|May 24, 2023
PubMed

Insights

Endocardial fibroelastosis (EFE) thickens heart tissue, often in children. Abnormal endothelial-to-mesenchymal transition is now understood as its root cause, impacting diagnosis and management.

Area of Science:

  • Cardiology
  • Pediatric Cardiology
  • Pathophysiology

Background:

  • Endocardial fibroelastosis (EFE) is a rare cardiac condition causing excessive endocardial thickening.
  • It predominantly affects infants and young children, often presenting as a secondary form linked to other cardiac diseases.
  • EFE is associated with poor patient prognosis and outcomes.

Purpose of the Study:

  • To review recent advancements in the pathophysiology of EFE.
  • To discuss current diagnostic workup and management strategies for EFE.
  • To explore potential differential diagnoses for EFE.

Main Methods:

  • Literature review of recent studies on EFE pathophysiology.
  • Analysis of current diagnostic approaches for EFE.
  • Review of established and emerging management strategies for EFE.

Main Results:

  • Recent data strongly suggest abnormal endothelial-to-mesenchymal transition as the primary cause of EFE.
  • Understanding this mechanism offers new insights into EFE development.
  • This review synthesizes current knowledge on diagnosis and management.

Conclusions:

  • Abnormal endothelial-to-mesenchymal transition is the key underlying mechanism in EFE.
  • Updated understanding of pathophysiology guides improved diagnostic and therapeutic approaches.
  • Further research is needed to optimize management and outcomes for EFE patients.

Keywords:
Cell receptorsCell signalingCongenital heart diseaseEndocardial fibroelastosisHeart failure

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