Gene sequencing thoracic aortic aneurysm

Syndrome	Gene
MFS	FBN1
LDS	TGFBR1 – TGF-beta receptor 1 TGFBR2 – TGF-beta receptor 2 SMAD3 – SMAD family member 3 TGFB2 – TGF-beta 2 ligand TGFB3 – TGF-beta 3 ligand
vEDS	COL3A1 – Type III procollagen
FTAAD	ACTA2 – Smooth muscle alpha-2-actin MYH11 – Smooth muscle myosin heavy chain TGFBR2 – TGF-beta receptor 2 MYLK – Myosin light chain kinase PRKG1 – Type I cGMP-dependent protein kinase regulating smooth muscle cell relaxation

MFS: Marfan syndrome; LDS: Loeys-Dietz syndrome; vEDS: vascular Ehlers-Danlos syndrome; FTAAD: familial thoracic aortic aneurysm and dissection; cGMP: cyclic guanosine monophosphate.

Adapted from: Goyal A, Keramati AR, Czarny MJ, et al. The genetics of aortopathies in clinical cardiology. Clin Med Insights Cardiol 2017; 11:1.

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Gene sequencing thoracic aortic aneurysm