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Figure 2 NOTCH1 Mutations Segregate With Familial Aortic Valve Disease

(A) Kindred with 5 generations (indicated with Roman numerals) affected by congenital heart disease and valve calcification. Participating members of each generation are indicated numerically. Deceased family members (slash) were unavailable for mutation analysis. Square = male; circle = female. (B) Cardiac phenotype in affected family members. AI = aortic insufficiency; AV = aortic valve; AVS = aortic stenosis; BAV = bicuspid aortic valve; TOF = tetralogy of Fallot; VSD = ventricular septal defect. (C) Sequence chromatogram of affected family members. (D) Kindred with 3 members affected by congenital heart disease. (E) Cardiac phenotype of family B. DORV = double-outlet right ventricle; HLV = hypoplastic left ventricle; MA = mitral atresia; MS = mitral stenosis. (F) Sequence chromatogram of affected members in family B. (G) Schematic drawings of normal trileaflet aortic valve, bicuspid aortic valve, and calcified aortic valve. Reprinted with permission from Macmillan Publishers: Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270–4.