{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,5,12]],"date-time":"2024-05-12T16:27:04Z","timestamp":1715531224136},"reference-count":25,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Archives of Disease in Childhood"],"published-print":{"date-parts":[[1973,1,1]]},"DOI":"10.1136\/adc.48.1.66","type":"journal-article","created":{"date-parts":[[2008,12,22]],"date-time":"2008-12-22T21:05:14Z","timestamp":1229979914000},"page":"66-69","source":"Crossref","is-referenced-by-count":7,"title":["Primary endocardial fibroelastosis. An inherited condition."],"prefix":"10.1136","volume":"48","author":[{"given":"A S","family":"Hunter","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A J","family":"Keay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1056\/NEJM196712072772304","article-title":"Familial neuroblastoma. Report of a kindred with multiple disorders including neuroblastomas in four siblings","volume":"277","author":"Chatten, J.; Voorhess, M.L.","year":"1967","unstructured":"Chatten, J., and Voorhess, M. L. (1967). Familial neuroblastoma. Report of a kindred with multiple disorders including neuroblastomas in four siblings. New England journal of Medicine, 277, 1230.","journal-title":"New England journal of Medicine"},{"key":"ref_2","first-page":"35","article-title":"Neuroblastoma of adrenal medulla in siblings","volume":"42","author":"Dodge, H.J.; Benner, M.C.","year":"1945","unstructured":"Dodge, H. J., and Benner, M. C. (1945). Neuroblastoma of adrenal medulla in siblings. Rocky Mountain Medical Journal, 42, 35.","journal-title":"Rocky Mountain Medical Journal"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1016\/S0022-3476(72)80456-6","article-title":"Familial neuroblastoma: report of a kindred with a high incidence of infantile tumors","volume":"80","author":"Hardy, P.C.; Nesbit, M.E.","year":"1972","unstructured":"Hardy, P. C., and Nesbit, M. E. (1972). Familial neuroblastoma: report of a kindred with a high incidence of infantile tumors. Jtournal of Pediatrics, 80, 74.","journal-title":"Jtournal of Pediatrics"},{"key":"ref_4","first-page":"355","article-title":"Ganglioneuroblastome als erbliche Systemerkrankung des sympathicus. Beitrage zurpathologischen Anatomie und zur allgemeinen","volume":"111","author":"Zimmerman, J.","year":"1951","unstructured":"Zimmerman, J. (1951). Ganglioneuroblastome als erbliche Systemerkrankung des sympathicus. Beitrage zurpathologischen Anatomie und zur allgemeinen Pathologie, 111, 355.","journal-title":"Pathologie"},{"key":"ref_5","first-page":"and","article-title":"aetiology in which there occurs a diffuse thickening up of the mural endocardium associated in most cases with myocardial hypertrophy and leading to early death'. Andersen and Kelly","author":"Sellers, Keith","year":"1956","unstructured":"aetiology in which there occurs a diffuse thickening up of the mural endocardium associated in most cases with myocardial hypertrophy and leading to early death'. Andersen and Kelly (1956) divided their series of endocardial fibroelastosis into the common variety associated with other congenital cardiac anomalies and the rarer primary form without such anomalies, and found a familial incidence in 23% of the primary variety. Forfar et al. (1964), reviewing 72 cases of endocardial fibroelastosis, found multiple familial incidence only in the primary group which accounted for 22% of their cases. A familial incidence has also been described in the primary form by Dordick (1951), Winter et al. (1960), and Sellers, Keith, and Manning (1964).","journal-title":"Forfar et al; divided their series of endocardial fibroelastosis into the common variety associated with other congenital cardiac anomalies and the rarer primary form without such anomalies, and found a familial incidence in 23% of the primary variety"},{"key":"ref_6","article-title":"A recent and attractive view is that EFE is a secondary response in certain individuals either to an intrinsic inherited myocardial defect, which results in inefficient myocardial function, or to grossly abnormal haemodynamics associated with a congenitally malformed heart","volume-title":"This view accords well with the clinical and haemodynamic findings in the natural history of primary and secondary varieties","year":"1964","unstructured":"A recent and attractive view is that EFE is a secondary response in certain individuals either to an intrinsic inherited myocardial defect, which results in inefficient myocardial function, or to grossly abnormal haemodynamics associated with a congenitally malformed heart (Moller et al., 1964). This view accords well with the clinical and haemodynamic findings in the natural history of primary and secondary varieties."},{"key":"ref_7","article-title":"Primary endocardial fibroelastosis An inherited condition The name endocardial fibroelastosis (EFE) was introduced by Weinberg and Himelfarb in 1943, though the condition had been described under other names. Gowing","volume-title":"defined endocardial fibroelastosis as a 'congenital condition of unknown Family I. There were 3 children in this family. The first child (Case 1, female) had the typical clinical picture of EFE in infancy but remains well on digoxin, though with reduced exercise tolerance. Cardiac catheterization has not been carried out. The second child (female) is apparently normal. The third child (Case 2, male) died in infancy after a brief but typical illness, and primary EFE was confirmed at necropsy. There is no family history of heart disease","year":"1953","unstructured":"Primary endocardial fibroelastosis An inherited condition The name endocardial fibroelastosis (EFE) was introduced by Weinberg and Himelfarb in 1943, though the condition had been described under other names. Gowing (1953) defined endocardial fibroelastosis as a 'congenital condition of unknown Family I. There were 3 children in this family. The first child (Case 1, female) had the typical clinical picture of EFE in infancy but remains well on digoxin, though with reduced exercise tolerance. Cardiac catheterization has not been carried out. The second child (female) is apparently normal. The third child (Case 2, male) died in infancy after a brief but typical illness, and primary EFE was confirmed at necropsy. There is no family history of heart disease."},{"key":"ref_8","first-page":"513","article-title":"Endocardial fibro-elastosis: I. endocardial fibro-elastosis associated with congenital malformations of the heart","volume":"18","author":"Andersen, D.H.; Kelly, J.","year":"1956","unstructured":"Andersen, D. H., and Kelly, J. (1956). Endocardial fibro-elastosis: I. endocardial fibro-elastosis associated with congenital malformations of the heart. Pediatrics, 18, 513, Dordick, J. R. (1951). Diffuse endocardial fibrosis and cardiac hypertrophy in infancy: report of two cases in consecutive siblings. American Journal of Clinical Pathology, 21, 743.","journal-title":"Pediatrics; Diffuse endocardial fibrosis and cardiac hypertrophy in infancy: report of two cases in consecutive siblings"},{"issue":"2","key":"ref_9","first-page":"7","volume":"7","author":"Forfar, J.O.; Miller, R.A.; Bain, A.D.; Macleod, W.","year":"1964","unstructured":"Forfar, J. O., Miller, R. A., Bain, A. D., and Macleod, W. (1964). Endocardial fibroelastosis. British Medical j7ournal, 2, 7.","journal-title":"Endocardial fibroelastosis. British Medical"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1002\/path.1700650103","article-title":"Congenital fibro-elastosis of the endocardium","volume":"65","author":"Gowing, N.F.C.","year":"1953","unstructured":"Gowing, N. F. C. (1953). Congenital fibro-elastosis of the endocardium. Journal of Pathology and Bacteriology, 65, 13.","journal-title":"Journal of Pathology and Bacteriology"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/hrt.30.6.850","article-title":"Endocardial fibro-elastosis, mitral incompetence, and coarctation of abdominal aorta. A report of 3 sibs","volume":"30","author":"Hallidie-Smith, K.A.; Olsen, E.G.J.","year":"1968","unstructured":"Hallidie-Smith, K. A., and Olsen, E. G. J. (1968). Endocardial fibro-elastosis, mitral incompetence, and coarctation of abdominal aorta. A report of 3 sibs. British Heart J7ournal, 30, 850.","journal-title":"British Heart J7ournal"},{"key":"ref_12","first-page":"539","article-title":"Congenital endocardial fibro-elastosis. II. A clinical and pathologic investigation of those cases without associated cardiac malformations, including a report of two familial instances","volume":"18","author":"Kelly, J.; Andersen, D.H.","year":"1956","unstructured":"Kelly, J., and Andersen, D. H. (1956). Congenital endocardial fibro-elastosis. II. A clinical and pathologic investigation of those cases without associated cardiac malformations, including a report of two familial instances. Pediatrics, 18, 539.","journal-title":"Pediatrics"},{"key":"ref_13","first-page":"643","article-title":"Endocardial fibroelastosis in one of threeyear-old twins. A review six years later","volume":"52","author":"Kempton, J.J.","year":"1959","unstructured":"Kempton, J. J. (1959). Endocardial fibroelastosis in one of threeyear-old twins. A review six years later. Proceedings of the Royal Society of Medicine, 52, 643.","journal-title":"Proceedings of the Royal Society of Medicine"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1016\/S0031-3955(16)30728-3","article-title":"Primary endomyocardial disease","volume":"5","author":"Lambert, E.C.; Vlad, P.","year":"1958","unstructured":"Lambert, E. C., and Vlad, P. (1958). Primary endomyocardial disease. Pediatric Clinics of North America, 5, 1057.","journal-title":"Pediatric Clinics of North America"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1016\/0002-9149(66)90431-0","article-title":"An epidemiological assessment of primary endocardial fibroelastosis","volume":"18","author":"Mitchell, S.C.; Froehlich, L.A.; Banas, J.S.; Gilkeson, M.R.","year":"1966","unstructured":"Mitchell, S. C., Froehlich, L. A., Banas, J. S., and Gilkeson, M. R. (1966). An epidemiological assessment of primary endocardial fibroelastosis. American Journal of Cardiology, 18, 859.","journal-title":"American Journal of Cardiology"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1542\/peds.38.5.918","article-title":"Endocardial fibroelastosis occurring in a mother and son","volume":"38","author":"Moller, J.H.; Fisch, R.O.; From, A.H.L.; Edwards, J.E.","year":"1966","unstructured":"Moller, J. H., Fisch, R. O., From, A. H. L., and Edwards, J. E. (1966). Endocardial fibroelastosis occurring in a mother and son. Pediatrics, 38, 918.","journal-title":"Pediatrics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1161\/01.CIR.30.5.759","article-title":"Endocardial fibroelastosis: a clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency","volume":"30","author":"Moller, J.H.; Lucas, R.V.; Adams, P.; Anderson, R.C.; Jorgens, J.; Edwards, J.E.","year":"1964","unstructured":"Moller, J. H., Lucas, R. V., Adams, P., Anderson, R. C., Jorgens, J., and Edwards, J. E. (1964). Endocardial fibroelastosis: a clinical and anatomic study of 47 patients with emphasis on its relationship to mitral insufficiency. Circulation, 30, 759.","journal-title":"Circulation"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1111\/j.0954-6820.1965.tb01816.x","article-title":"Primary endocardial fibroelastosis in three siblings","volume":"177","author":"Nielsen, J.S.","year":"1965","unstructured":"Nielsen, J. S. (1965). Primary endocardial fibroelastosis in three siblings. Acta Medica Scandinavica, 177, 145.","journal-title":"Acta Medica Scandinavica"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(67)80041-6","article-title":"Familial endocardial fibroelastosis","volume":"70","author":"Rafinski, T.; Golenia, A.; Wozniewicz, B.; Wlad, S.","year":"1967","unstructured":"Rafinski, T., Golenia, A., Wozniewicz, B., and Wlad, S. (1967). Familial endocardial fibroelastosis. Journal of Pediatrics, 70, 574.","journal-title":"Journal of Pediatrics"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1161\/01.CIR.29.1.49","article-title":"The diagnosis of primary endocardial fibroelastosis","volume":"29","author":"Sellers, F.J.; Keith, J.D.; Manning, J.A.","year":"1964","unstructured":"Sellers, F. J., Keith, J. D., and Manning, J. A. (1964). The diagnosis of primary endocardial fibroelastosis. Circulation, 29, 49.","journal-title":"Circulation"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/0002-8703(61)90523-3","article-title":"Endocardial fibroelastosis in one of monozygotic twins","volume":"61","author":"Stadler, H.E.","year":"1961","unstructured":"Stadler, H. E. (1961). Endocardial fibroelastosis in one of monozygotic twins. American Heart3Journal, 61, 116.","journal-title":"American Heart3Journal"},{"key":"ref_22","first-page":"585","article-title":"Angeborene Herzhypertrophie mit Endokardfibrose bei zwei eineligen Partnern von mannlichen Drillingen. Zeitschrift fiur menschliche Vererbungsund","volume":"21","author":"Ullrich, 0","year":"1938","unstructured":"Ullrich, 0. (1938). Angeborene Herzhypertrophie mit Endokardfibrose bei zwei eineligen Partnern von mannlichen Drillingen. Zeitschrift fiur menschliche Vererbungsund Konstitionslehre, 21, 585.","journal-title":"Konstitionslehre"},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1111\/j.1651-2227.1962.tb06514.x","article-title":"Primary endocardial fibroelastosis in siblings","volume":"51","author":"Vestermark, S.","year":"1962","unstructured":"Vestermark, S. (1962). Primary endocardial fibroelastosis in siblings. Acta Paediatrica, 51, 94.","journal-title":"Acta Paediatrica"},{"key":"ref_24","first-page":"299","article-title":"Endocardial fibroelastosis (so-called foetal endocarditis): a report of two cases occurring in siblings","volume":"72","author":"Weinberg, T.; Himelfarb, A.J.","year":"1943","unstructured":"Weinberg, T., and Himelfarb, A. J. (1943). Endocardial fibroelastosis (so-called foetal endocarditis): a report of two cases occurring in siblings. Bulletin of the Jtohns Hopkins Hospital, 72, 299.","journal-title":"Bulletin of the Jtohns Hopkins Hospital"},{"key":"ref_25","article-title":"Glomerulonephritis associated with Staphylococcus albus in a Spitz Holter valve The association of glomerulonephritis with infection of a ventriculoatrial shunt by Staphylococcus albus was first described by Black, Challacombe, and Ockenden (1965), and the presence of yglobulin and complement in the glomeruli suggested that the glomerulonephritis was due to an immune response. The findings of immune deposits on the glomeruli in similar cases was also reported by Stickler","author":"et al.","year":"1970","unstructured":"Glomerulonephritis associated with Staphylococcus albus in a Spitz Holter valve The association of glomerulonephritis with infection of a ventriculoatrial shunt by Staphylococcus albus was first described by Black, Challacombe, and Ockenden (1965), and the presence of yglobulin and complement in the glomeruli suggested that the glomerulonephritis was due to an immune response. The findings of immune deposits on the glomeruli in similar cases was also reported by Stickler et al. (1968) and Rames et al. (1970), who in addition described electron dense deposits in the glomeruli of their 3 patients. Staphylococcal antigen in the glomeruli of a further case of shunt nephritis was found by Kaufman and McIntosh (1971). 5 cases presented at clinical meetings were quoted by Rames et al. (1970) and 2 more cases were reported briefly by Leumann, Stauffer, and Wegmann (1971).","journal-title":"et al. (1968) and Rames et al; who in addition described electron dense deposits in the glomeruli of their 3 patients. Staphylococcal antigen in the glomeruli of a further case of shunt nephritis was found by Kaufman and McIntosh"}],"container-title":["Archives of Disease in Childhood"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/adc.48.1.66","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,23]],"date-time":"2023-05-23T03:39:45Z","timestamp":1684813185000},"score":1,"resource":{"primary":{"URL":"https:\/\/adc.bmj.com\/lookup\/doi\/10.1136\/adc.48.1.66"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,1,1]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1973,1,1]]}},"URL":"https:\/\/doi.org\/10.1136\/adc.48.1.66","relation":{},"ISSN":["0003-9888","1468-2044"],"issn-type":[{"value":"0003-9888","type":"print"},{"value":"1468-2044","type":"electronic"}],"subject":[],"published":{"date-parts":[[1973,1,1]]}}}