Learn About Endocardial Fibroelastosis

What is the definition of Endocardial Fibroelastosis?
A condition characterized by the thickening of ENDOCARDIUM due to proliferation of fibrous and elastic tissue, usually in the left ventricle leading to impaired cardiac function (CARDIOMYOPATHY, RESTRICTIVE). It is most commonly seen in young children and rarely in adults. It is often associated with congenital heart anomalies (HEART DEFECTS CONGENITAL;) INFECTION; or gene mutation. Defects in the tafazzin protein, encoded by TAZ gene, result in a form of autosomal dominant familial endocardial fibroelastosis.
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What are the alternative names for Endocardial Fibroelastosis?
  • Endocardial fibroelastosis
  • Endomyocardial fibroelastosis
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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