Table 1.

Syndromic genetic associations with thoracic aortic aneurysms and dissections.

Syndrome	Gene loci	Presentation	Pathophysiology
Congenital contractural arachnodactyly (33)	FBN2	TAAD	Disruption of ECM microfibril through fibrillin-2
Ehlers-Danlos syndrome (EDS) type IV (20)	COL3A1	TAAD	Defective type III procollagen disrupts collagen III deposition and function
Loeys-Dietz syndrome (26)	TGFBR1, TGFBR2	TAAD	Alters TGF-β signalling dysregulates collagen and elastin physiology
Marfan syndrome (14, 15)	FBN1	TAAD	Disruption of ECM microfibril through fibrillin-1
Multisystemic smooth muscle dysfunction syndrome (27, 28)	ACTA2	TAAD	Defective α-actin affects aortic SMC function
Turner syndrome (22)	Partial or complete loss of X chromosome	TAAD	Congenital cardiac and vascular malformation changes haemodynamics