Heritable thoracic aortic aneurysm conditions
| Condition | Gene | Clinical features |
| Syndromic HTAD* | ||
| Marfan syndrome | FBN1 | Aortic root aneurysm, AD, TAA, MVP, arachnodactyly, scoliosis, pectus deformities, ectopia lentis, myopia, tall stature, PTX, dural ectasia, dolichocephaly, malar hypoplasia, retrognathia and downslanting palpebral fissures. |
| Loeys-Dietz syndrome |
TGFBR1, TGFBR2,* SMAD3,
TGFB2, TGFB3, SMAD2 | TAA, branch vessel aneurysms, AD, arterial tortuosity, MVP, craniosynostosis, hypertelorism, bluish sclera, bifid uvula, translucent skin, visible veins, clubfoot, dural ectasia, *premature osteoarthritis. |
| Vascular Ehlers-Danlos syndrome | COL3A1 | TAA, AAA, arterial rupture, AD, MVP, bowel and uterine rupture, PTX, translucent skin, facial features, atrophic scars, small joint hypermobility, easy bruising, clubfoot and carotid-cavernous fistula. |
| Non-syndromic HTAD (familial TAAD) | ||
| FTAA | ACTA2 | TAA, AD, BAV, moyamoya, premature CAD and CVD, livedo reticularis and iris flocculi. |
| FTAA | MYH11 | TAA, AD and PDA. |
| FTAA | MYLK | AD at relatively small aortic size. |
| FTAA | PRKG1 | Aortic root aneurysm and AD. |
| FTAA | MAT2A | TAA, AD and BAV. |
| FTAA | MFAP5 | TAA, AD and skeletal features. |
| FTAA | FOXE3 | TAA and AD. |
| FTAA | THSD4 | TAA and AD. |
| Bicuspid aortic valve-associated ascending aortic aneurysm | ||
| Familial BAV/AS and TAA | NOTCH1 | Aortic stenosis and TAA. |
| BAV with TAA | TGFBR1, TGFBR2, TGFB2, TGFB3, ACTA2, MAT2A, GATA5, SMAD6, LOX, ROBO4 and TBX20 | Syndromic and non-syndromic FTAA with an increased frequency of BAV. |
*Some individuals with pathogenic variants in a gene that can lead to syndromic HTAD have very few or no syndromic features and variants in some genes causing syndromic HTAD may also lead to non-syndromic HTAD.
AAA, abdominal aortic aneurysm; AD, aortic dissection; BAV, bicuspid aortic valve; CAD, coronary artery disease; CVD, cerebrovascular disease; FTAA, familial thoracic aortic aneurysm; HTAD, heritable thoracic aortic disease; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PTX, pneumothorax; TAA, thoracic aortic aneurysm.