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Items: 5

1.

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. [from MeSH]

MedGen UID:
4041
Concept ID:
C0014117
Disease or Syndrome
2.

Endocardial fibroelastosis

MedGen UID:
504922
Concept ID:
CN001551
Finding
3.

Aortic valve stenosis

The presence of a stenosis (narrowing) of the aortic valve. [from HPO]

MedGen UID:
504892
Concept ID:
CN001503
Finding
4.

3-Methylglutaconic aciduria type 2

Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with endocardial fibroelastosis (EFE), a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Features of the disease that are less well known include hypertrophic cardiomyopathy, isolated left ventricular noncompaction (LVNC), ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood (summary by Steward et al., 2010). For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (250950). [from OMIM]

MedGen UID:
107893
Concept ID:
C0574083
Disease or Syndrome
5.

Aortic valve stenosis

constriction in the opening of the aortic valve or of the supravalvular or subvalvular regions. [from CRISP]

MedGen UID:
1621
Concept ID:
C0003507
Disease or Syndrome
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