TABLE II.
Medial Degeneration in Heritable Thoracic Aortic Aneurysm and Dissection (Genetic Aortopathies)
| Variant gene | Phenotype | Grade of medial degeneration | |||
|---|---|---|---|---|---|
| Aortic dissection, No. | Mild | Moderate | Severe | ||
| FBN1 (n = 13) | Marfan syndrome | 5 | 2 | 6 | 5 |
| ACTA2 (n = 6) | Aortic aneurysm thoracic familial 6 | 4 | 1 | 1 | 4 |
| TGFBR1 (n = 7) | Loeys-Dietz syndrome 1 | 2 | 3 | 3 | 1 |
| TGFBR2 (n = 3) | Loeys-Dietz syndrome 2 | 1 | 0 | 2 | 1 |
| TGFβ2 (n = 3) | Loeys-Dietz syndrome 4 | 2 | 0 | 1 | 2 |
| SMAD3 (n = 3) | Loeys-Dietz syndrome 3 | 1 | 1 | 1 | 1 |
| LOX1 (n = 1) | Aortic aneurysm thoracic familial 10 | 0 | – | 1 | 0 |
| MYLK (n = 1) | Aortic aneurysm thoracic familial 4 | 1 | 0 | 0 | 1 |
| PRKG1 (n = 1) | Aortic aneurysm thoracic familial 8 | 0 | 0 | 1 | 0 |
| COL3A1 (n = 4) | Vascular Ehlers-Danlos syndrome | 1 | 1 | 2 | 1 |
| Total (N = 42) | 17 (40%) | 8 (20%) | 18 (43%) | 16 (37%) | |