Table 1. TAAD with their corresponding genes and clinical features.
| Disorder | Gene(s) | Main cardiovascular features | Additional clinical features | |
|---|---|---|---|---|
| Syndromic TAAD | ||||
| Marfan (1,7,8) | FBN1 | Aortic root aneurysm, aortic dissection, mitral valve prolapse, main pulmonary artery dilatation, left ventricular dysfunction |
Lens luxation, skeletal features (arachnodactylia, pectus deformity, scoliosis, flat feet, increased armspan, dolichocephalia) |
|
| Ehlers-Danlos (9-11) (vascular, valvular) | COL3A1, COL1A2 | Arterial rupture and dissection without preceding dilatation/aneurysm, severe valvular insufficiency |
Translucent skin, dystrophic scars, facial characteristics (Madonna face, thin lips, deep set eyes) |
|
| TGFβ-related vasculopathies | ||||
| Loeys-Dietz (2,12) | TGFBR1/2 | Aortic root aneurysm, aortic dissection, arterial aneurysms and dissections, arterial tortuosity, mitral valve prolapse, congenital cardiac malformations* |
Bifid uvula/cleft palate, hypertelorism, pectus abnormalities, scoliosis, club feet |
|
| Aneurysm-Osteoarthritis (13-15) |
SMAD3 | Aortic root aneurysm, aortic dissection, arterial aneurysms and dissections, arterial tortuosity, mitral valve prolapse, congenital cardiac malformations* |
Osteoarthritis, soft skin, flat feet, scoliosis, recurrent hernia’s, hypertelorism, pectus abnormalities |
|
| TGFᵦ2 (16,17) | TGFᵦ2 | Aortic root aneurysm, aortic dissection, arterial aneurysms and dissections, arterial tortuosity, mitral valve prolapse, congenital cardiac malformations* |
Club feet, soft translucent skin | |
| Arterial tortuosity syndrome (18) | SLC2A10 | Arterial tortuosity, arterial stenoses and aneurysms | Hyperlax skin and joints | |
| Cutis laxa syndromes (19) | FBLN4 | Aortic root aneurysm, arterial tortuosity | Hyperlax skin and joints, mild emphysema |
|
| Non syndromic TAAD | ||||
| Familial thoracic aortic aneurysm syndrome (FTAA) (20-22) |
TGFBR1/2 (3-5%) |
Thoracic aortic aneurysm/dissection | Lack of syndromal features | |
|
ACTA2 (10-14%) |
Thoracic aortic aneurysm/dissection, cerebrovascular disease, coronary artery disease |
Lack of Marfanoid skeletal features, livedo reticularis, iris flocculi, coronary artery/cerebrovascular disease) |
||
| MLCK | Thoracic aortic aneurysm/dissection | Gastro-intestinal abnormalities | ||
| SMAD3 (2%) | Intracranial and other arterial aneurysms | |||
| TGFᵦ2 | Mitral valve prolapse | |||
| FTAA with bicuspid aortic valve (BAV) (23,24) |
ACTA2 | Lack of Marfanoid skeletal features, livedo reticularis, iris flocculi |
||
| NOTCH1 | Highly calcified valve | |||
| FTAA with patent ductus arteriosus (PDA) (6) | MYH11 | Patent ductus arteriosus | ||