. Author manuscript; available in PMC: 2014 Jul 1.

Published in final edited form as: Prog Cardiovasc Dis. 2013 May 15;56(1):68–73. doi: 10.1016/j.pcad.2013.04.002

Table 1.

Gene defects and characteristics of TAA syndromes

Syndrome	Gene	Protein	Characteristics
Marfan	FBN1	Fibrillin 1	Aortic dilation, ectopia lentis, pectus deformity, spontaneous pneumothorax, increased arm span, hypermobile joints, abdominal wall laxity, highly arched palates
Loeys-Dietz	TGFBR1 TGFBR2	TGF-βR I TGF-βR II	Arterial aneurysms, craniosynostosis, cleft palate, congenital heart defects, mental retardation
Ehlers-Danlos type IV	COL3A1	Type III collagen	Arterial fragility, translucent skin, facial dysmorphology. Fragile tissues make surgery dangerous.
Familial TAA	ACTA2 MYH11 TGFBR2	Smooth muscle actin β myosin heavy chain TGF-βR II	TAA TAA, patent ductus arteriosus TAA