Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

Figure 1

Pedigree of bicuspid aortic valve (BAV) family. BAV subjects are evidenced in green, whereas those showing tricuspid aortic valve (TAV) are not highlighted. An arrow indicates the proband case. Variants at NOTCH1, FBN1, LTBP1, and TGFBR3 loci identified in BAV family members are shown. Birth years are reported at the upper left corner of symbols identifying subjects. MAS: maximal aortic size; AA: ascending aorta; AR: aortic root; nsCTD: nonspecific connective tissue disorders.