Table 2.

Bicuspid aortic valve.

Syndromic BAV	Associated genes	Prevalence of BAV	Reference
Turner Syndrome	Monosomy X or partial of X chromosome	15–40.7%	[66, 67]
Loeys-Dietz syndrome	TGFBR2 (55–60%), TGFBR1 (20–25%),TGFB2 (5–10%), SMAD3 (5–10%), TGFB3 (1–5%)	10–30%	[57, 62]
Andersen syndrome	KCNJ2	10%	[63]
Shone’s complex	NOTCH1	50%	[57]
Velocardiofacial syndrome	deletion of 22q11.2	7.5%	[64]
Non-Syndromic familial or sporadic forms of BAV	NOTCH1, GATA4, GATA5, GATA6, SMAD4, SMAD6, ROBO4, MAT2A, ADAMTS19, NKX2–5, TBX20, FBN1, ACTA2	-	[55, 57, 65]
	Polymorphisms (ACE, MMP)
Familial TAAD	ACTA2 (14–21%), MYH11, MYLK, and PRKG1 gene	-	[62]

BAV, bicuspide aortic valve; TAAD, thoracic aortic aneurysms and dissection; TGFBR2, transforming growth factor $\beta$ receptor 2; TGFBR1, transforming growth factor $\beta$ receptor 1; TGFB2, transforming growth factor $\beta$ 2; SMAD3, SMAD family member 3; TGFB3, transforming growth factor $\beta$ 3; KCNJ2, potassium voltage-gated channel subfamily J member 2; NOTCH1, NOTCH receptor 1; GATA4, GATA binding protein 4; GATA5, GATA binding protein 5; GATA6, GATA binding protein 6; SMAD4, SMAD family member 4; SMAD6, SMAD family member 6; ROBO4, roundabout guidance receptor 4; MAT2A, methionine adenosyltransferase 2A; ADAMTS19, a disintegrin and metalloproteinase with thrombospondin motifs 19; NKX2-5, NK2 homeobox 5; TBX20, T-box 20; FBN1, fibrillin 1; ACTA2, actin, $\alpha$ 2, smooth muscle, aorta; ACE, angiotensin I converting enzyme; MMP, matrix metallopeptidase; MYH11, myosin heavy chain 11; MYLK, myosin light chain kinase; PRKG1, protein kinase, CGMP-dependent, type I.