Table 6 Summary of the genetic aortopathies

Marfan syndrome

Fibrillin-1-encoding FBN-1 gene

Vascular smooth muscle cell loss and cystic medial necrosis

Aortic root dilatation and increased risk of aortic dissection

Vascular Ehlers-Danlos syndrome

COL3A1 encoding Collagen III

Increased fragility of vessels

Increased risk of dissection and rupture often without dilation

Loeys-Dietz syndrome

TGFBRI, TGFBRII, SMAD3 gene, TGFB2 gene, TGFB3 gene

Increased medial collagen, elastic fiber fragmentation and medial degeneration

Widespread arterial tortuosity, aneurysms and dissection (often without dilatation)

Turner syndrome

45 XO or mosaic 45 XO

Cystic medial necrosis possibly secondary to primary neural crest defect in 4^th branchial/pharyngeal arch leading to cardiac, vascular and lymph anomalies

Aortic dilatation typically beginning at aortic root/ascending aorta, bicuspid aortic valve aortic coarctation

Noonan syndrome

PTPN 11 mutation and other mutations in RAS-Mitogen activated protein kinase pathway

Signal changes in several intracellular transduction pathways leading to cardiofacial abnormalities, abnormalities in valvulogenesis and lymphedema

Aortic root dilation, ascending aorta dilatation, coronary artery aneurysms and pulmonary artery stenosis

Osteoarthritis-Aneurysm syndrome

SMAD3

Disorganization of the tunica media, fragmentation and loss of elastic fibers and accumulation of collagen

Aortic root dilation, aortic dissection and widespread aneurysms associated with early onset osteoarthritis

Non syndromic familial thoracic aneurysms and dissections

ACTA2

MYH11

MYLK

Vascular smooth muscle cell protein abnormalities

Familial thoracic aortic aneurysms and dissections