Endocardial fibroelastosis

Endomyocardial fibroelastosis is a cause of unexplained childhood cardiac insufficiency. It results from diffuse thickening of the endocardium leading to dilated myocardiopathy in the majority of cases and restrictive myocardiopathy in rare cases. It may occur as a primary disorder or may be secondary to another cardiac malformation, notably aortic stenosis or atresia.

Cataract

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Total: 2

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PMID (PMCID)
7747788	MALE	Infant, Newborn
	New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome).
	Devi AS, Eisenfeld L, Uphoff D, Greenstein R. Am J Med Genet. 1995;56(1):62-6.
	New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome).
7747788	MALE	Infant, Newborn
	New syndrome of hydrocephalus, endocardial fibroelastosis, and cataracts (HEC syndrome).
	Devi AS, Eisenfeld L, Uphoff D, Greenstein R. Am J Med Genet. 1995;56(1):62-6.
	We report on two unrelated male infants with similar findings of communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts, who died at 4 months of age.