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The first family is a three\u2010generation pedigree with 10 family members affected with congenital defects of the cardiac valves, including six patients with aortic stenosis and\/or aortic regurgitation. Pulmonary and\/or tricuspid valve abnormalities were present in three patients, and ventricular septal defect (VSD) was present in two patients. The second family consists of 11 patients in three generations with aortic valve stenosis in seven patients, defects of the pulmonary valves in two patients, and atrial septal defect (ASD) in two patients. Incomplete penetrance was observed in both families. Although left\u2010ventricular outflow tract obstruction was present in most family members, the co\u2010occurrence with pulmonary valve abnormalities and septal defects in both families is uncommon. These families provide evidence that left\u2010sided obstructive defects and thoracic aortic aneurysm may be accompanied by right\u2010sided defects, and even septal defects. These families might be instrumental in identifying genes involved in cardiac valve morphogenesis and malformation. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32594","type":"journal-article","created":{"date-parts":[[2009,1,22]],"date-time":"2009-01-22T14:20:22Z","timestamp":1232634022000},"page":"216-225","source":"Crossref","is-referenced-by-count":5,"title":["Autosomal dominant inheritance of cardiac valves anomalies in two families: Extended spectrum of left\u2010ventricular outflow tract obstruction"],"prefix":"10.1002","volume":"149A","author":[{"given":"Marja W.","family":"Wessels","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid M.B.H.","family":"van de 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