Table 1.
Context | Gene | Incidence | References |
---|---|---|---|
BAV in humans | NOTCH1 | Mutations found in 27 BAV patients | Mohamed et al., 1797; Garg et al., 2005; McKellar et al., 2007; Foffa et al., 2013; Kent et al., 2013; Bonachea et al., 2014; Freylikhman et al., 2014; Kerstjens-Frederikse et al., 2016 |
SMAD6 | Mutations found in 2 BAV patients | Tan et al., 2012 | |
MAT2A | Mutations found in 1 BAV patient | Guo et al., 2015 | |
BAV in mice | ACVR1 | BAV in 78–83% of Alk2FXKO/Gata5−Cre+ mice | Thomas et al., 2012 |
GATA4 | BAV in 43% of Gata4+/−;Gata5+/− mice | Laforest and Nemer, 2011 | |
GATA5 | BAV in 25% of Gata5−/− mice | Laforest et al., 2011 | |
GATA6 | BAV in 25% Gata5+/−;Gata6+/− mice | Laforest and Nemer, 2011 | |
MATR3 | BAV in 12% in Matr3+/− mice | Quintero-Rivera et al., 2015 | |
NKX2-5 | BAV in 2–20% of Nkx2-5+/− mice | Biben et al., 2000 | |
NOS3 | BAV in 42% of Nos3−/− mice | Lee et al., 2000 | |
ROBO1 | BAV in 100% of Robo1−/−;Robo2−/− mice | Mommersteeg et al., 2015 | |
ROBO2 | BAV in 100% of Robo1−/−;Robo2−/− mice | Mommersteeg et al., 2015 | |
BAV in (non)syndromic TAA cases | FBN1 | Occasional BAV in Marfan syndrome | Attias et al., 2009; Nistri et al., 2012; Pepe et al., 2014 |
ACTA2 | 7% BAV in non-syndromic TAA | Guo et al., 2007 | |
ELN | Occasional BAV in cutis laxa | Callewaert et al., 2011 | |
FLNA | Occasional BAV in X-linked valve disease | Jefferies et al., 2010 | |
MYH11 | Occasional BAV in non-syndromic TAA | Personal observation | |
SMAD3 | 3–11% BAV in Loeys-Dietz syndrome | van de Laar et al., 2012 | |
TGFB2 | 8–13% BAV in Loeys-Dietz syndrome | Lindsay et al., 2012 | |
TGFB3 | 4% BAV in Loeys-Dietz syndrome | Personal observation | |
TGFBR1 | 8–12% BAV in Loeys-Dietz syndrome | Personal observation | |
TGFBR2 | 8–12% BAV in Loeys-Dietz syndrome | Personal observation |
BAV, Bicuspid aortic valve; TAA, Thoracic aortic aneurysm.