Thoracic aortopathy with aneurysm can be associated with a number of genetic disorders, which often affect other organs as well.
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Syndrome
|
Gene
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Name
|
|
Marfan Syndrome (MFS)
|
FBN-1
|
fibrillin
|
|
Loeys-Dietz syndrome (LDS)
|
5 (see below)
|
see below
|
|
vascular Ehlers-Danlos syndrome (vEDS)
|
COL3A1
|
type III procollagen
|
|
familial thoracic aortic aneurysm and dissection (FTAAD)
|
5 (see below)
|
see below
|
|
LDS Gene
|
Name
|
|
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
|
|
FTAAD Gene
|
Name
|
|
ACRA1
|
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
|
|
Syndrome
|
Clinical Findings
|
|
MFS
|
aortic dilation at sinuses of Valsalva; skeletal, ocular, and cardiovascular defects
|
|
LDS
|
fast-growing thoracic aortic aneurysm with death in early adulthood
|
|
vEDS
|
spontaneous intestinal, arterial or uterine rupture; joint and cutaneous manifestation; high surgical mortality
|
|
FTAAD ACTA2
|
livedo reticularis; iris floculi; patent ductus arteriosus; nonthoracic aneurysm; premature coronary artery disease; ischemic stroke; moyamoya
|
|
FTAAD MYH11
|
patent ductus arteriosus
|
|
FTAAD TGFBR2
|
abdominal, cerebral and coronary aneurysms
|
|
FTAAD MYLK
|
aortic dissection with or without preceding aneurysm
|
|
FTAAD PRKG1
|
aortic dissection at young age; coronary artery aneurysm with dissection
|
