Table 1.

Pathogenic variants associated with heritable thoracic aortic disease (HTAD).

TYPE OF HTAD	GENETIC ABNORMALITY
Syndromic HTAD
Marfan Syndrome	FBN1
Loeys-Dietz Syndrome	TGFBR1 TGFBR2 SMAD2 SMAD3 TGFB2, TGFB3
Vascular Ehlers-Danlos Syndrome (type IV)	COL3A1
Nonsyndromic HTAD	ACTA2, MYH11, MYLK, LOX, and PRKG1