{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:17:37Z","timestamp":1787167057946,"version":"build-2736575974"},"reference-count":30,"publisher":"BMJ","issue":"11","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1994,11]]},"abstract":"<jats:p>Congenital heart defects are a major congenital abnormality and are assuming increasing importance. A study was undertaken to estimate the incidence of congenital heart defects in Northern Ireland over a five year period (1974-1978), to determine the age at diagnosis and to assess the risk of recurrence in sibs. An incidence rate of 7.3 per 1000 total births was found. This reduced to 3.1 per 1000 total births if only invasive methods of diagnosis (catheter studies, surgery, or necropsy) were considered. The overall risk of recurrence for sibs (excluding index patients with chromosomal abnormalities and syndromes) was 3.1%. In addition, excluding families with an affected parent and child gave a recurrence risk of 2.6%. By 6 weeks of age 63% of index patients had been diagnosed and this figure had risen to 88% by 1 year. This has important implications for studies which include only congenital heart defects diagnosed in the first year of life. Of 388 patients with a congenital heart defect confirmed by invasive criteria, 96 (24.7%) were found to have an extracardiac abnormality (ECA). Excluding those with epilepsy or mental handicap as the sole ECA left 91 (23.5%) with an ECA. This highlights the importance of looking for other abnormalities in a child with a congenital heart defect. The 388 index patients had 952 sibs of whom 72 (7.6%) had an ECA. Excluding those with minor abnormalities (inguinal hernias, undescended testes) as the sole ECA left 62 (6.5%) with a major ECA. In addition, excluding those with epilepsy or mental handicap as the sole ECA left 51 (5.4%) with a major ECA. Since parents are often reassured after the birth of a child with a congenital heart defect that their risk of having a child with a noncardiac abnormality is no greater than the general population this finding has important implications for genetic counselling.<\/jats:p>","DOI":"10.1136\/jmg.31.11.858","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"858-863","source":"Crossref","is-referenced-by-count":24,"title":["Genetic study of congenital heart defects in Northern Ireland (1974-1978)."],"prefix":"10.1136","volume":"31","author":[{"given":"E J","family":"Hanna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N C","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Nelson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1994,11,1]]},"reference":[{"key":"ref_1","first-page":"121","article-title":"1The incidence and life expectation of children with congenital heart disease","volume-title":"Br Heart _j","volume":"15","author":"MacMahon, B.; McKeown, T.; Record, R.G.","year":"1953","unstructured":"MacMahon B, McKeown T, Record RG. 1The incidence and life expectation of children with congenital heart disease. Br Heart _j 1953;15:121-9."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1136\/hrt.35.2.189","article-title":"Incidence of cardiac malformations at birth and later, and neonatal mortality","volume":"35","author":"Campbell, M.","year":"1973","unstructured":"Campbell M. Incidence of cardiac malformations at birth and later, and neonatal mortality. Br HeartJt 1973;35:189-200.","journal-title":"Br HeartJt"},{"key":"ref_3","first-page":"221","article-title":"Risk factors for congenital heart disease: a prospective study. In: Birth defects: risks and consequences","author":"Heinonen, O.P.","year":"1976","unstructured":"Heinonen OP. Risk factors for congenital heart disease: a prospective study. In: Birth defects: risks and consequences. New York: Academic Press, 1976:221-64."},{"key":"ref_4","first-page":"17","article-title":"Congenital heart disease in Liverpool 1960-1969","volume":"44","author":"Kenna, A.P.; Smithells, R.W.; Fielding, D.W.","year":"1975","unstructured":"Kenna AP, Smithells RW, Fielding DW. Congenital heart disease in Liverpool 1960-1969. Q Jf Med 1975;44:17-44.","journal-title":"Q Jf Med"},{"key":"ref_5","first-page":"44550","article-title":"Incidence of congenital heart disease in Blackpool 1957-1971","volume":"39","author":"Bound, J.P.; Logan, W.F.W.E.","year":"1977","unstructured":"Bound JP, Logan WFWE. Incidence of congenital heart disease in Blackpool 1957-1971. Br Heart 1977;39:44550.","journal-title":"Br Heart"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1007\/BF00144842","article-title":"Risk factors in congenital heart disease","volume":"5","author":"Stoll, C.; Alembik, Y.; Roth, M.P.; Dott, B.; De Geeter, B.","year":"1989","unstructured":"Stoll C, Alembik Y, Roth MP, Dott B, De Geeter B. Risk factors in congenital heart disease. Eur Epidemiol 1989;5:382-91.","journal-title":"Eur Epidemiol"},{"issue":"2","key":"ref_7","first-page":"550","article-title":"Congenital heart disease in Western Australia - a ten-year experience","volume":"21","author":"Bower, C.; Ramsay, J.M.","year":"1991","unstructured":"Bower C, Ramsay JM. Congenital heart disease in Western Australia - a ten-year experience. Aust NZ Med 1991;21(suppl 2):550.","journal-title":"Aust NZ Med"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1093\/oxfordjournals.aje.a114978","article-title":"Congenital heart disease: incidence in the first year of life. The Alberta Heritage Pediatric Cardiology Program","volume":"128","author":"Grabitz, R.G.; Joffres, M.R.; Collins-Nakai, R.L.","year":"1988","unstructured":"Grabitz RG, Joffres MR, Collins-Nakai RL. Congenital heart disease: incidence in the first year of life. The Alberta Heritage Pediatric Cardiology Program. Am Epidemiol 1988;128:381-8.","journal-title":"Am Epidemiol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1093\/oxfordjournals.aje.a113979","article-title":"Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study","volume":"121","author":"Ferencz, C.; Rubin, J.D.; McCarter, R.J.","year":"1985","unstructured":"Ferencz C, Rubin JD, McCarter RJ, et al. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study. Am Epidemiol 1985;121:31-6.","journal-title":"Am Epidemiol"},{"key":"ref_10","first-page":"375","article-title":"Report of the New England Regional Infant Cardiac Program","volume":"65","author":"Fyler, D.C.","year":"1980","unstructured":"Fyler DC. Report of the New England Regional Infant Cardiac Program. Pediatrics 1980;65(suppl):375-461.","journal-title":"Pediatrics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1016\/0002-9149(76)90153-3","article-title":"Fetal and infant death, twinning and cardiac malformations in families of 2,000 children with, and 500 without, cardiac defects","volume":"38","author":"Anderson, R.C.","year":"1976","unstructured":"Anderson RC. Fetal and infant death, twinning and cardiac malformations in families of 2,000 children with, and 500 without, cardiac defects. Am Cardiol 1976;38:218-24.","journal-title":"Am Cardiol"},{"key":"ref_12","first-page":"197","article-title":"The recurrence risk in congenital heart disease","volume":"7","author":"Sanchez-Cascos, A.","year":"1978","unstructured":"Sanchez-Cascos A. The recurrence risk in congenital heart disease. Eur Cardiol 1978;7:197-210.","journal-title":"Eur Cardiol"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"329","DOI":"10.1542\/peds.37.2.329","article-title":"Familial nature of congenital heart diseases","volume":"37","author":"Nora, J.J.; Meyer, T.C.","year":"1966","unstructured":"Nora JJ, Meyer TC. Familial nature of congenital heart diseases. Pediatrics 1966;37:329-34.","journal-title":"Pediatrics"},{"issue":"11","key":"ref_14","first-page":"289","article-title":"Research on the etiology of congenital heart defects","volume":"1961","author":"Fuhrmann, W.","unstructured":"Fuhrmann W. Research on the etiology of congenital heart defects. Acta Genet (Basel) 1961;11:289-316.","journal-title":"Acta Genet (Basel)"},{"key":"ref_15","first-page":"28","article-title":"Extracardiac congenital malformations in children with congenital heart disease","volume":"146","author":"Boesen, I.; Melchior, J.C.; Terslev, E.; Vendel, S.","year":"1963","unstructured":"Boesen I, Melchior JC, Terslev E, Vendel S. Extracardiac congenital malformations in children with congenital heart disease. Acta Paediatr Scand 1963;146:28-33.","journal-title":"Acta Paediatr Scand"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1136\/bmj.2.5467.895","article-title":"Causes of malformations of the heart","volume":"2","author":"Campbell, M.","year":"1965","unstructured":"Campbell M. Causes of malformations of the heart. Br MedJ 1965;2:895-904.","journal-title":"Br MedJ"},{"key":"ref_17","first-page":"17","article-title":"Genetic and nongenetic factors in the etiology of congenital heart disease: a study of 1188 cases","volume":"9","year":"1957","unstructured":"Lamy M, de Grouchy J, Schweisguth 0. Genetic and nongenetic factors in the etiology of congenital heart disease: a study of 1188 cases. Am Hum Genet 1957;9:17-41.","journal-title":"Am Hum Genet"},{"key":"ref_18","first-page":"221","article-title":"Risk factors for congenital heart disease: a prospective study. Birth defects: risks and consequences","author":"Heinonen, O.P.","year":"1976","unstructured":"Heinonen OP. Risk factors for congenital heart disease: a prospective study. Birth defects: risks and consequences. New York: Academic Press, 1976:221-64."},{"key":"ref_19","article-title":"Congenital malformations in children born in Belfast 1 964-1968","author":"Scott, M.J.","year":"1975","unstructured":"Scott MJ. Congenital malformations in children born in Belfast 1 964-1968. MD thesis, The Queen's University of Belfast, 1975."},{"key":"ref_20","first-page":"17","article-title":"Congenital heart disease in Liverpool 1960-69","volume":"44","author":"Kenna, A.P.; Smithells, R.W.; Fielding, D.W.","year":"1975","unstructured":"Kenna AP, Smithells RW, Fielding DW. Congenital heart disease in Liverpool 1960-69. Q Med 1975;44:17-44.","journal-title":"Q Med"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"420","DOI":"10.1136\/jmg.13.6.420","article-title":"A family study of coarctation of the aorta","volume":"13","author":"Boon, A.R.; Roberts, D.F.","year":"1976","unstructured":"Boon AR, Roberts DF. A family study of coarctation of the aorta. Med Genet 1976;13:420-33.","journal-title":"Med Genet"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1136\/jmg.9.2.179","article-title":"A family study of Fallot's tetralogy","volume":"9","author":"Boon, A.R.; Farmer, M.B.; Roberts, D.F.","year":"1972","unstructured":"Boon AR, Farmer MB, Roberts DF. A family study of Fallot's tetralogy. Med Genet 1972;9:179-92.","journal-title":"Med Genet"},{"issue":"6","key":"ref_23","first-page":"255","article-title":"A family study of atrial septal defect","volume":"1969","author":"Williamson, E.M.","unstructured":"Williamson EM. A family study of atrial septal defect. Med Genet 1969;6:255-61.","journal-title":"Med Genet"},{"key":"ref_24","first-page":"319","article-title":"A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations","volume-title":"Northern Ireland. Int Epidemiol","volume":"7","author":"Nevin, N.C.; McDonald, JR, Walby; A.L.","year":"1978","unstructured":"Nevin NC, McDonald JR, Walby AL. A comparison of neural tube defects identified by two independent routine recording systems for congenital malformations in Northern Ireland. Int Epidemiol 1978;7:319-21."},{"key":"ref_25","article-title":"Epidemiological and genetic studies in congenital heart disease","author":"Hanna, E.J.","year":"1985","unstructured":"Hanna EJ. Epidemiological and genetic studies in congenital heart disease. MD thesis, The Queen's University of Belfast, 1985."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1111\/j.1399-0004.1971.tb00259.x","article-title":"Dominant mode of inheritance in atrial septal defect","volume":"2","author":"Zetterqvist, P.; Turesson, I.; Johansson, B.W.; Laurell, S.; Ohlsson, N.M.","year":"1971","unstructured":"Zetterqvist P, Turesson I, Johansson BW, Laurell S, Ohlsson NM. Dominant mode of inheritance in atrial septal defect. Clin Genet 1971;2:78-86.","journal-title":"Clin Genet"},{"key":"ref_27","first-page":"341","article-title":"Familial supravalvular aortic stenosis","volume":"108","author":"Eisenberg, R.; Young, D.; Jacobson, B.; Boito, A.","year":"1964","unstructured":"Eisenberg R, Young D, Jacobson B, Boito A. Familial supravalvular aortic stenosis. Am Dis Child 1964;108:341-7.","journal-title":"Am Dis Child"},{"key":"ref_28","first-page":"603","article-title":"Familial patent ductus arteriosus","volume-title":"Br Heart","volume":"23","author":"Burman, D.","year":"1961","unstructured":"Burman D. Familial patent ductus arteriosus. Br Heart 1961;23:603-4."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1016\/0002-9149(87)90956-8","article-title":"Matemal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens","volume":"59","author":"Nora, J.J.; Nora, A.H.","year":"1987","unstructured":"Nora JJ, Nora AH. Matemal transmission of congenital heart diseases: new recurrence risk figures and the questions of cytoplasmic inheritance and vulnerability to teratogens. Am J Cardiol 1987;59:459-63.","journal-title":"Am J Cardiol"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1177\/146642407909900120","article-title":"The importance of screening for genetic diseases","volume":"99","author":"Nevin, N.C.","year":"1979","unstructured":"Nevin NC. The importance of screening for genetic diseases. R Soc Health J 1979;99:37-40.","journal-title":"R Soc Health J"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.31.11.858","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:10:39Z","timestamp":1760771439000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.31.11.858"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,11]]},"references-count":30,"journal-issue":{"issue":"11","published-online":{"date-parts":[[1994,11,1]]},"published-print":{"date-parts":[[1994,11]]}},"alternative-id":["10.1136\/jmg.31.11.858"],"URL":"https:\/\/doi.org\/10.1136\/jmg.31.11.858","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,11]]}}}