Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. [PDF]
Am J Med Genet A, 2022 The Nexilin F‐Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z‐disc protein important for cardiac function and development in humans, zebrafish, and mice.
Johansson J +12 more
europepmc +3 more sources
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. [PDF]
J Mol Med (Berl), 2021 Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated ...
Zhao Y +24 more
europepmc +4 more sources
Caution in the use of sedation and endomyocardial biopsy for the management of pediatric acute heart failure caused by endocardial fibroelastosis. [PDF]
World J Clin Cases, 2023 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 ...
Xin XX, Se YY.
europepmc +2 more sources
Endocardial fibroelastosis [PDF]
Definitions, 2020 A rare disorder characterized by diffuse thickening of the endocardium. It presents with unexplained heart failure.
semanticscholar +5 more sources
Indian Journal of Pathology and Microbiology, 2023 Endocardial fibroelastosis is characterized by proliferation of both elastic and collagenous fibers within the endocardium, causing diffuse or localized thickening.
Bhavya P. Mohan +3 more
doaj +2 more sources
Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition [PDF]
Circulation Research, 2015 Rationale: Endocardial fibroelastosis (EFE) is a unique form of fibrosis, which forms a de novo subendocardial tissue layer encapsulating the myocardium and stunting its growth, and which is typically associated with congenital heart diseases of ...
Raghu Kalluri +2 more
exaly +3 more sources
Abnormal Flow Conditions Promote Endocardial Fibroelastosis Via Endothelial-to-Mesenchymal Transition, Which Is Responsive to Losartan Treatment. [PDF]
JACC Basic Transl Sci, 2021 Visual ...
Oh NA +8 more
europepmc +2 more sources
Incremental value of three-dimensional and contrast echocardiography in the evaluation of endocardial fibroelastosis and multiple cardiovascular thrombi: A case report. [PDF]
World J Clin Cases, 2021 BACKGROUND Endocardial fibroelastosis (EFE) is a rare heart disease characterized by thickening of the endocardium caused by massive proliferation of collagenous and elastic tissue, usually leading to impaired cardiac function.
Sun LJ, Li Y, Qiao W, Yu JH, Ren WD.
europepmc +2 more sources
Endocardial fibroelastosis and dilated cardiomyopathy - the past and future of the interface between histology and genetics. [PDF]
Rom J Morphol Embryol, 2020 Endocardial fibroelastosis (EFE) signifies the pathological process by which collagen and elastin are focally or diffuse deposited in the endocardium of the left ventricle.
Luca AC +10 more
europepmc +2 more sources
Indian Journal of Radiology and Imaging, 2013 Fetal endocardial fibroelastosis (EFE) has been diagnosed by antenatal ultrasonography in the past few years. A typical case of isolated endocardial fibroelastosis is illustrated here, in a fetus of 22 weeks of gestational age exposed to maternal ...
Karippaliyil Balakumar +2 more
doaj +2 more sources