Endocardial fibroelastosis is a condition characterized by widespread thickening of the mural endocardium due to proliferation of collagen and elastic fibers. The border between the overgrown endocardium and the adjacent myocardium is usually clearly defined. The left ventricle is the chamber of the heart most frequently affected. Nom. 1943 (Weinberg and Himelfarb)
Transmission
X-linked form
autosomal recessive form
Etiology
primary
secondary
- cardiomyopathy
- MTTL2 mitochondrial cardiomyopathy (MIM.590055)
- familial cardiomyopathy with conduction disturbance (MIM.108770)
- isolated noncompaction of ventricular myocardium (INVM) (MIM.300183)
-
metabolic diseases
-
Barth syndrome (cardioskeletal myopathy with neutropenia) (MIM.302060)
- systemic carnitine deficiency (MIM.212140)
- Hurler syndrome (mucopolysaccharidosis type IH) (MIM.607014) (#2500843#)
- mucopolysaccharidosis type VI (#3109796#)
Associations
communicating hydrocephalus and congenital cataracts (HEC syndrome) (MIM.600559) (#7747788#)
ulnar agenesis with oligodactyly (MIM.276822) (#2248295#)
faciocardiorenal syndrome (horseshoe kidneys, severe mental retardation, characteristic facies (broad nasal bridge, large chin, open mouth), and heart defect (conduction defects, cardiac enlargement, endocardial fibroelastosis) (MIM.227280)
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