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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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