Table 2. Schematic of the medical management.

Disorder		Treatment	Follow-up
Marfan (1,7,8)		Beta-blocking agents, losartan? Surgery when AoD > 50 mm or > 46 mm in case of familial history of dissection or rapid growth (> 2 mm/y) or severe AR or MR	Echocardiography q1y when diameter < 45 mm q6m in all other cases; MRA q5y when aortic diameters outside the sinuses of Valsalva are normal, MRA q1y in all other cases
Ehlers-Danlos (9-11) (vascular, valvular)		Celiprolol. Surgery uncertain	Unclear (dissection/rupture often at normal diameters)
TGFβ-related vasculopathies     Loeys-Dietz (2,12)     Aneurysm-osteoarthritis (13-15)     TGFᵦ2 (16,17)		No trials yet – adopt medical treatment from Marfan syndrome; surgery when AoD > 43-45 mm	Echocardiography q6mo; CT/MRI head to pelvis q6mo-1y
Familial thoracic aortic aneurysm syndrome (20-22)		No trials yet - adopt from Marfan syndrome	Same as in Marfan syndrome; Consider coronary/cerebrovascular imaging in ACTA2 mutation carriers
FTAA with bicuspid aortic valve (23,24)		No trials yet - adopt from Marfan syndrome	Echocardiography q6mo-1y (also related to valvular function)
FTAA with patent ductus arteriosus (6)		No trials yet - adopt from Marfan syndrome	Same as in Marfan syndrome

AoD, aortic root diameter; AR, aortic regurgitation; MR, mitral regurgitation; MRA, magnetic resonance angiogram; FTAA, familial thoracic aortic aneurysm