Endocardial fibroelastosis and dilated cardiomyopathy - the past and future of the interface between histology and genetics

Vol. 61 No. 4, 2020

ROMANIAN JOURNAL of MORPHOLOGY and EMBRYOLOGY

Alina Costina Luca, Ludmila Lozneanu, Ingrith Crenguta Miron, Laura Mihaela Trandafir, Elena Cojocaru, Ioana Alexandra Paduret, Doina Mihaila, Maria Magdalena Leon-Constantin, Stefan Chiriac, Alin Constantin Iordache, Elena Tarca

Endocardial fibroelastosis (EFE) signifies the pathological process by which collagen and elastin are focally or diffuse deposited in the endocardium of the left ventricle. The new layer causes left ventricular dysfunction sometimes with fulminant progression to heart failure. EFE is a major component in many congenital heart abnormalities but can also occur in the absence of heart malformations, either as a primary process or in response to cardiac injury. The endothelial-mesenchymal transition (EndMT) abnormalities seem to be main pathogenic factor in fibroelastosis development. The gold standard for diagnosis of primary EFE (pEFE) is the histological examination. Additionally, genetic studies may help to establish the natural course of the disease and to communicate prophylactic measures to family members of the affected child. Moreover, in the newborn, EFE takes the form of dilated cardiomyopathy (DCM) with unfavorable evolution. The proper management should be established considering negative prognostic factors, involving early transplantation, drug therapy and long-term follow-up.

Corresponding author: Elena Cojocaru, Associate Professor, MD, PhD; e-mail: ellacojocaru@yahoo.com; Laura Mihaela Trandafir, Associate Professor, MD, PhD; e-mail: trandafirlaura@yahoo.com

DOI: 10.47162/RJME.61.4.02 Download PDF
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