Inherited connective tissue diseases and thoracic aortic aneurysm
| Inherited condition | Implicated gene | Clinical features |
|---|---|---|
| Marfan syndrome | FBN1 | Aneurysm of aortic root, dilation of pulmonary artery, and aortic dissection |
| Ehlers-Danlos syndrome | COL5A1, COL5A2, COL3A1 | Arterial mid-sized rupture, especially involving thoracic vasculature |
| Loeys-Dietz syndrome | TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 | Premature and aggressive aneurysm and dissection; aneurysm may involve aortic segments other than the root |
| Familial thoracic aortic aneurysm and dissection | ACTA2, MYH11, PRKG1, MYLK, TGFBR2 | Thoracic aortic aneurysm and dissection; associated vascular disease (eg, patent ductus arteriosus) |
| Bicuspid aortic valve | Unknown (may be associated with ACTA2, MYH11, syndromic connective tissue diseases) | Aortic dilation typically involving the aortic root and ascending aorta |
| Autosomal dominant polycystic kidney disease | PKD1, PKD2 | Dilation of the aorta and thoracic aortic dissection |
| Turner syndrome | 45,X | Thoracic aortic aneurysms and dissections, bicuspid aortic valve, aortic coarctation |
Reprinted from Cury M, Zeidan F, Lobato AC. Aortic disease in the young: genetic aneurysm syndromes, connective tissue disorders, and familial aortic aneurysms and dissections. Int J Vasc Med 2013(2013); 2013:267215. doi:10.1155/2013/267215