Table 1. Genetic mutations associated with a bicuspid aortic valve.

Disorder	Genetic mutation
BAV	NOTCH1, 9q34
	AXIN1-PDIA2
	Endoglin gene
Marfan syndrome	FBN1, 15q21.1
	TGFBR2, 3p25-24.2
Loeys-Dietz	TGFBR1, 9q33-34
	TGFBR2, 3p24-25
Ehlers Danlos	COL3A1, 2q24.3-q31
FTAAD	TAAD1, 5q13-14
	TAAD2, 3p24-25
	TAAD3, 15q24-26
	TAAD4, 10q23-24
	TAAD5, 9q33-34

BAV, bicuspid aortic valve; FTAAD, familial thoracic aortic aneurysms and dissection.