Preferred Label : Endocardial fibroelastosis;
Symbol : EFE;
CISMeF acronym : EFE;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Weinberg and Himelfarb (1943) first introduced the term endocardial fibroelastosis,
although the disorder had been described under other designations before. The reports
of EFE in sibs include those of Winter et al. (1960), Zanker and Fisher (1960), Vestermark
(1962) and McKusick (1962). Moller et al. (1966) described EFE in a young woman who
died of heart failure during the postpartum period and in the child who was born of
that pregnancy and died at 11 months of age. Either genetic causation or viral infection
was suggested. Among the children of first-cousin parents, Rafinski et al. (1967)
observed 3 who died of EFE at ages 10, 11 and 13 years, which is longer survival than
usual. Although the accumulated experience strongly supports the existence of an autosomal
recessive variety of EFE, many cases may occur on a nongenetic basis. EFE is called
primary or secondary according to whether malformations are not or are associated.
Hunter and Keay (1973) described a family in which 2 sisters had 5 affected children,
one having affected children by different husbands. Autosomal dominant inheritance
with incomplete penetrance was suggested. Rosenquist et al. (1972) attempted, without
success, to implicate circulating maternal antiheart antibody as a possible etiology.
They studied 2 mothers, each of whom had had 2 affected infants. Westwood et al. (1975)
described a family in which there were affected dizygotic female twins, and in another
family, an affected half brother and sister with the same father. Jennings et al.
(1980) described 2 brothers with EFE, unusual facial appearance, and cryptorchidism.
One died at 4 weeks of age. The surviving brother was mentally retarded with seizures.
Opitz (1982) discussed the genetics of EFE. EFE is sometimes a manifestation of systemic
carnitine deficiency (212140). The occasional families suggesting autosomal recessive
inheritance will probably be found to be examples of this or some other form of metabolic
cardiomyopathy.;
Inheritance : Autosomal recessive; heterogeneous;
Prefixed ID : 226000;
Origin ID : 226000;
UMLS CUI : C0014117;
Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
