{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:52:06Z","timestamp":1792284726076,"version":"4.4.0"},"reference-count":49,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2009,7,28]]},"abstract":"<jats:p>\n                    <jats:bold>\n                      <jats:italic>Background\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    Knowledge of the familial contribution to congenital heart diseases (CHD) on an individual and population level is sparse. We estimated an individual\u2019s risk of CHD given a family history of CHD, as well as the contribution of CHD family history to the total number of CHD cases in the population.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>\n                      <jats:italic>Methods and Results\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    In a national cohort study, we linked all Danish residents to the National Patient Register, the Causes of Death Register, the Danish Central Cytogenetic Register, and the Danish Family Relations Database, yielding 1 763 591 persons born in Denmark between 1977 and 2005, of whom 18 708 had CHD. Individuals with CHD were classified by phenotype. We estimated recurrence risk ratios and population-attributable risk. Among first-degree relatives, the recurrence risk ratio was 79.1 (95% confidence interval [CI] 32.9 to 190) for heterotaxia, 11.7 (95% CI, 8.0 to 17.0) for conotruncal defects, 24.3 (95% CI,12.2 to 48.7) for atrioventricular septal defect, 12.9 (95% CI, 7.48 to 22.2) for left ventricular outflow tract obstruction, 48.6 (95% CI, 27.5 to 85.6) for right ventricular outflow tract obstruction, 7.1 (95% CI, 4.5 to 11.1) for isolated atrial septal defect, and 3.4 (95% CI, 2.2 to 5.3) for isolated ventricular septal defect. The overall recurrence risk ratio for the same defect was 8.15 (95% CI, 6.95 to 9.55), whereas it was 2.68 (95% CI, 2.43 to 2.97) for different heart defects. Only 2.2% of heart defect cases in the population (4.2% after the exclusion of chromosomal aberrations) were attributed to CHD family history in first-degree relatives.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>\n                      <jats:italic>Conclusions\u2014<\/jats:italic>\n                    <\/jats:bold>\n                    Specific CHDs showed highly variable but strong familial clustering in first-degree relatives, ranging from 3-fold to 80-fold compared with the population prevalence, whereas the crossover risks between dissimilar cases of CHD were weaker. Family history of any CHD among first-degree relatives accounted for a small proportion of CHD cases in the population.\n                  <\/jats:p>","DOI":"10.1161\/circulationaha.109.857987","type":"journal-article","created":{"date-parts":[[2009,7,13]],"date-time":"2009-07-13T21:50:21Z","timestamp":1247521821000},"page":"295-301","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":329,"title":["Recurrence of Congenital Heart Defects in Families"],"prefix":"10.1161","volume":"120","author":[{"given":"Nina","family":"\u00d8yen","sequence":"first","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gry","family":"Poulsen","sequence":"additional","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather A.","family":"Boyd","sequence":"additional","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Wohlfahrt","sequence":"additional","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter K.A.","family":"Jensen","sequence":"additional","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Melbye","sequence":"additional","affiliation":[{"name":"From the Department of Epidemiology Research (N.\u00d8., G.P., H.A.B., J.W., M.M.), Statens Serum Institut, Copenhagen, Denmark; Department of Public Health and Primary Health Care (N.\u00d8.), Faculty of Medicine and Odontology, University of Bergen, Bergen, Norway; Center for Medical Genetics and Molecular Medicine (N.\u00d8.), Haukeland University Hospital, Bergen, Norway; and Department of Clinical Genetics (P.K.A.J.), A\u030arhus University Hospital, A\u030arhus, Denmark."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"e_1_3_2_1_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.183216"},{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.627224"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.179918"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20356"},{"key":"e_1_3_2_5_2","unstructured":"International Clearinghouse for Birth Defects. Surveillance and research [ICBDSR Centre International Centre on Birth Defects; Rome Italy; 2008]. Available at: http:\/\/www.icbdsr.org. Accessed June 23 2008."},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2006.113787"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ahj.2008.10.017"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1161\/circ.43.3.323"},{"key":"e_1_3_2_9_2","unstructured":"Kirby ML. Cardiac Development. Oxford United Kingdom: Oxford University Press; 2007."},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.183056"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9149(87)90956-8"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199407073310101"},{"key":"e_1_3_2_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/gepi.1370110204"},{"key":"e_1_3_2_14_2","unstructured":"Ferencz C Loffredo CA Correa-Villasenor A Wilson PD. Genetic and Environmental Risk Factors in Major Cardiovascular Malformations: The Baltimore-Washington Infant Study 1981\u20131989. Armonk NY: Futura Publishing; 1998."},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(97)06486-6"},{"key":"e_1_3_2_16_2","unstructured":"Westergaard T. Birth Order and Cancer Risk [doctoral thesis]. Copenhagen Denmark: Department of Epidemiology Research Statens Serum Institut; 1997."},{"key":"e_1_3_2_17_2","first-page":"251","volume":"167","year":"2008","unstructured":"Schnack TH, Zdravkovic S, Myrup C, Westergaard T, Christensen K, Wohlfahrt J, Melbye M. Familial aggregation of hypospadias: a nation-wide cohort study. Am J Epidemiol. 2008; 167: 251\u2013256.","journal-title":"Am J Epidemiol"},{"key":"e_1_3_2_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20403"},{"key":"e_1_3_2_19_2","doi-asserted-by":"publisher","DOI":"10.1375\/136905202320906084"},{"key":"e_1_3_2_20_2","doi-asserted-by":"crossref","unstructured":"Benichou J. Attributable risk. In: Armitage P Colton T eds. Encyclopedia of Biostatistics. Volume 1. 2nd ed. Chichester England: Wiley; 2005: 249\u2013262.","DOI":"10.1002\/0470011815.b2a03007"},{"key":"e_1_3_2_21_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199904083401401"},{"key":"e_1_3_2_22_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.285.6.755"},{"key":"e_1_3_2_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0797-243"},{"key":"e_1_3_2_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-30"},{"key":"e_1_3_2_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_3_2_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1939"},{"key":"e_1_3_2_27_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_3_2_28_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_3_2_29_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.10.044"},{"key":"e_1_3_2_30_2","doi-asserted-by":"publisher","DOI":"10.1038\/75578"},{"key":"e_1_3_2_31_2","unstructured":"Gardner RJM Sutherland GR. Chromosomal Abnormalities and Genetic Counseling. 4th ed. New York NY: Oxford University Press; 2004."},{"key":"e_1_3_2_32_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-008-0513-9"},{"key":"e_1_3_2_33_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32160"},{"key":"e_1_3_2_34_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.281.5373.108"},{"key":"e_1_3_2_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(01)00160-9"},{"key":"e_1_3_2_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00435.x"},{"key":"e_1_3_2_37_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31471"},{"key":"e_1_3_2_38_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30601"},{"key":"e_1_3_2_39_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a010156"},{"key":"e_1_3_2_40_2","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20457"},{"key":"e_1_3_2_41_2","doi-asserted-by":"publisher","DOI":"10.7863\/jum.2007.26.11.1491"},{"key":"e_1_3_2_42_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a009666"},{"key":"e_1_3_2_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0300-9084(01)01357-8"},{"key":"e_1_3_2_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-3995(02)01130-9"},{"key":"e_1_3_2_45_2","unstructured":"EUROCAT 1980\u20132005: Prevalence data tables [UK EUROCAT Central Registry]. Available at: http:\/\/www.eurocat.ulster.ac.uk\/. Accessed Mar. 7 2008."},{"key":"e_1_3_2_46_2","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951104006043"},{"key":"e_1_3_2_47_2","unstructured":"EUROCAT. Prevalence tables [EUROCAT Web site database University Of Ulster 2003]. Available at: http:\/\/www.bio-medical.co.uk\/eurocatlive. Accessed March 31 2009."},{"key":"e_1_3_2_48_2","doi-asserted-by":"publisher","DOI":"10.1002\/sim.1319"},{"key":"e_1_3_2_49_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5462.2398"}],"container-title":["Circulation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ahajournals.org\/doi\/full\/10.1161\/CIRCULATIONAHA.109.857987","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,13]],"date-time":"2024-05-13T02:12:19Z","timestamp":1715566339000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ahajournals.org\/doi\/10.1161\/CIRCULATIONAHA.109.857987"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7,28]]},"references-count":49,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,7,28]]}},"alternative-id":["10.1161\/CIRCULATIONAHA.109.857987"],"URL":"https:\/\/doi.org\/10.1161\/circulationaha.109.857987","relation":{},"ISSN":["0009-7322","1524-4539"],"issn-type":[{"value":"0009-7322","type":"print"},{"value":"1524-4539","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,7,28]]},"assertion":[{"value":"2009-07-13","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}