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Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population\u2010based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore\u2010Washington area. The rates of CHD were defined for first\u2010degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Pre\u2010currence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.<\/jats:p>","DOI":"10.1002\/ajmg.1320260411","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:52:04Z","timestamp":1118544724000},"page":"839-849","source":"Crossref","is-referenced-by-count":131,"title":["Familial risks of congenital heart defect assessed in a population\u2010based epidemiologic study"],"prefix":"10.1002","volume":"26","author":[{"given":"Joann A.","family":"Boughman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kate A.","family":"Berg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline A.","family":"Astemborski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward 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