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 |