SNOMEDCT: 65457005; ICD10CM: I42.4; ICD9CM: 425.3; ORPHA: 2022; DO: 12929;
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.
Barth (2005) stated that 'endocardial fibroelastosis,' a descriptive term for the pearly-White fibrotic endocardium observed by pathologists when opening the heart at autopsy, went into disuse when emphasis shifted to the study of cardiac dynamics by ultrasound; the descriptive terminology subsequently changed to 'dilated cardiomyopathy.'
Barth, P. Review of syndromes. X-linked cardioskeletal myopathy and neutropenia (MIM 302060, Barth syndrome). Europ. J. Paediat. Neurol. 9: 117-120, 2005.
Chen, S.-H., Thompson, M. W., Rose, V. Endocardial fibroelastosis: family studies with special reference to counseling. J. Pediat. 79: 385-392, 1971. [PubMed: 5567961] [Full Text: https://doi.org/10.1016/s0022-3476(71)80145-2]
Hunter, A. S., Keay, A. J. Primary endocardial fibroelastosis. An inherited condition. Arch. Dis. Child. 48: 66-69, 1973. [PubMed: 4265460] [Full Text: https://doi.org/10.1136/adc.48.1.66]
Jennings, M. T., Hall, J. G., Kukolich, M. Endocardial fibroelastosis, neurologic dysfunction and unusual facial appearance in two brothers, coincidentally associated with dominantly inherited macrocephaly. Am. J. Med. Genet. 5: 271-276, 1980. [PubMed: 6105824] [Full Text: https://doi.org/10.1002/ajmg.1320050309]
Lee, M. O., Liebman, J., Steinberg, A. G., Perrin, E. V., Whitman, V. Familial occurrence of endocardial fibroelastosis in 3 siblings, including identical twins. Pediatrics 51: 402-411, 1973.
McKusick, V. A. Medical genetics 1961. J. Chronic Dis. 15: 417-572, 1962. Fig. 18.
Moller, J. H., Fisch, R. O., From, A. H. L., Edwards, J. E. Endocardial fibroelastosis occurring in a mother and son. Pediatrics 38: 918-921, 1966. [PubMed: 5954232]
Opitz, J. M. Genetic aspects of endocardial fibroelastosis. Am. J. Med. Genet. 11: 92-96, 1982.
Rafinski, T., Golenia, A., Wozniewicz, B., Wlad, S. Familial endocardial fibroelastosis. J. Pediat. 70: 574-576, 1967. [PubMed: 6019751] [Full Text: https://doi.org/10.1016/s0022-3476(67)80041-6]
Rose, V. Endocardial fibroelastosis--family studies with special reference to recurrence risk. Birth Defects Orig. Art. Ser. VIII(5): 27-29, 1972.
Rosenquist, G. C., Glass, L. E., Simpson, E. Familial incidence of endocardial fibroelastosis: circulating maternal antiheart antibody as a possible etiology. Birth Defects Orig. Art. Ser. 8(5): 30-35, 1972.
Seibold, H., Mohr, W., Lehmann, W. D., Lang, D., Spanel, R., Schwarz, J. Fibroelastosis of the right ventricle in two brothers of triplets. Path. Res. Pract. 170: 402-409, 1980. [PubMed: 7220390] [Full Text: https://doi.org/10.1016/S0344-0338(80)80044-6]
Vestermark, S. Primary endocardial fibroelastosis in siblings. Acta Paediat. 51: 94-96, 1962. [PubMed: 13925665] [Full Text: https://doi.org/10.1111/j.1651-2227.1962.tb06514.x]
Weinberg, T., Himelfarb, A. J. Endocardial fibroelastosis (so-called fetal endocarditis): a report of two cases occurring in siblings. Bull. Johns Hopkins Hosp. 72: 299-306, 1943.
Westwood, M., Harris, R., Burns, J. L., Barson, A. J. Heredity in primary endocardial fibroelastosis. Brit. Heart J. 37: 1077-1084, 1975. [PubMed: 127595] [Full Text: https://doi.org/10.1136/hrt.37.10.1077]
Winter, S. T., Moses, W. S., Cohen, N. J., Naftalin, J. M. Primary endocardial fibroelastosis in two sisters. Am. J. Dis. Child. 99: 529-533, 1960.
Zanker, T., Fisher, R. S. Endocardial fibroelastosis in siblings. Maryland Med. J. 9: 60-65, 1960. [PubMed: 13846986]