case_images: PMC6145047_01
case_images: PMC6145047_02
case_images: PMC6145047_03
case_images: PMC6145047_04
case_images: PMC6145047_05
case_images: 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.
case_images: BMRI2018-8386123.001.jpg
case_images: PMC6145047_05_BMRI2018-8386123.001.jpg
case_images: fig1
case_images: TGFBR3 (p.Arg423Trp) (Figure 1). These variants were confirmed through Sanger technology (Figure 2). Variants detected in the proband were also investigated in his first-degree relatives (Figure 1). FBN1 gene, both p.Asn542Ser and p.Lys2460Arg variants were inherited in cis by the mother (I-1) and not found in any of other family members. Finally, the TGFBR3 variant was transmitted by the father to the offspring (Figure 1).
case_images: Electropherograms showing NOTCH1, FBN1, LTBP1, and TGFBR3 gene mutations.
case_images: BMRI2018-8386123.002.jpg
case_images: PMC6145047_05_BMRI2018-8386123.002.jpg
case_images: fig2
case_images: TGFBR3 (p.Arg423Trp) (Figure 1). These variants were confirmed through Sanger technology (Figure 2).