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Gene sequencing thoracic aortic aneurysm
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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