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Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.
Heart Fail Rev
September 2024
Institute for Cardiogenetics, University of Lübeck, Ratzeburger Allee 160, 23562, Lübeck, Germany.
Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic foundations is crucial for their diagnosis and treatment. Recent genetic analyses involving a growing number of participants have uncovered novel mutations within both coding and non-coding regions of DNA, contributing to the onset of cardiac conditions. The NEXN gene, encoding the Nexilin protein, an actin filament-binding protein, is integral to normal cardiac function.
View Article and Find Full Text PDFEndocardial Fibroelastosis Resection: When it Works and When it Does Not.
Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu
March 2024
Department of Cardiac Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.. Electronic address:
Endocardial fibroelastosis (EFE) is a thickening of the endocardial layer by accumulation of collagen and elastic fibers. Endothelial to mesenchymal transformation is proposed to be the underlying mechanism of formation. Although EFE can occur in both right and left ventricles, this article will focus on management of left ventricular EFE.
View Article and Find Full Text PDFEndocardial fibroelastosis causing sudden death in an infant: Autopsy case report of an unusual lesion.
Indian J Pathol Microbiol
July 2024
Department of Pathology, Government Medical College, Thrissur, Kerala, India.
Endocardial fibroelastosis is characterized by proliferation of both elastic and collagenous fibers within the endocardium, causing diffuse or localized thickening. A four-and-a-half-month-old baby was admitted to a local hospital, with a history of seizures for one day. Baby developed features of heart failure and died within one week after admission.
View Article and Find Full Text PDFCaution in the use of sedation and endomyocardial biopsy for the management of pediatric acute heart failure caused by endocardial fibroelastosis.
World J Clin Cases
August 2023
Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, China.
Endocardial fibroelastosis (EFE) is commonly considered to be an inflammatory reactive lesion of hyperplasia and deposition of tissue fibers and collagen in the endocardium and/or subendocardium, which is strongly associated with endocardial sclerosis, ventricular remodeling and acute and chronic heart failure, and is one of the important causes for pediatric heart transplantation. Early diagnosis and treatment are the key factors in determining the prognosis of the children. In this paper, we would like to highlight the potential unintended consequences of the use of sedation and biopsy for pediatric acute heart failure caused by EFE and the comprehensive considerations prior to clinical diagnosis.
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