endocardial fibroelastosis
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Definition: 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.
Synopsis
endocardial thickness increase
endocardial fibrosis associating collagen fibers and elastic fibers
endocardial calcifications (calcified endocardial fibroelastosis) (3051147, 13915097, 13739516, 9440110)
Etiology
primary
- X-linked endocardial fibroelastosis (MIM.300183) (TAZ mutations at Xq28)
- autosomal recessive endocardial fibroelastosis
- Marles-Chudley syndrome (ulnar agenesis and endocardial fibroelastosis association) (MIM.276822)
secondary
-
cardiac malformations
- left ventricular outflow obstruction
- aortic atresia
- aortic valve stenosis (aortic stenosis)
- mitral valve hypoplasia
- left ventricle hypoplasia
- left ventricular outflow obstruction
- mitral incompetence and coarctation of abdominal aorta (MIM.226100)
- LEOPARD syndrome (MIM.151100)
- Ebstein anomaly (1636604)
- L-transposition of the great arteries with Ebstein anomaly (9688767)
- anomalous right coronary artery arising from the pulmonary trunk (4029950)
- inherited human cardiomyopathies
- MTTL2 mitochondrial cardiomyopathy (MIM.590055)
- MYH7 germline mutations (beta-cardiac myosin heavy chain mutation) (17019812)
- familial cardiomyopathy with conduction disturbance (MIM.108770)
- isolated noncompaction of ventricular myocardium (INVM) or left ventricular noncompaction (LVNC) (MIM.300183)
- twin-twin transfusion syndrome (9724339)
-
viral infections
- coxsackie virus myocarditis
- metabolic diseases
- Barth syndrome (cardioskeletal myopathy with neutropenia) (MIM.302060) (TAZ mutations at Xq28)
- systemic carnitine deficiency (MIM.212140)
- Hurler syndrome (mucopolysaccharidosis type IH) (MIM.607014) (2500843)
- mucopolysaccharidosis type VI (3109796)
-
dysimmunity and auto-immunity
- neonatal lupus with auto-antibodies anti-SSA/Ro and anti-SSB/La antigens (16980725, 16218462)
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)
See also
P.S.
MIM.305300 MIM.226000