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familial aortic aneurysm
Familial syndromes associated with aortic aneurysm.
Genetics:
- three such syndromes associated with defects in TGFBR1
a) Loeys-Dietz syndrome type 1A
b) Loeys-Dietz syndrome type 1B
c) Loeys-Dietz syndrome type 2A
d) Loeys-Dietz syndrome type 2B
e) aortic aneurysm familial thoracic type 3
f) aortic aneurysm familial thoracic type 5
Specific
aortic aneurysm familial thoracic type 3
aortic aneurysm familial thoracic type 4; familial thoracic aortic aneurysm & dissection
aortic aneurysm familial thoracic type 5
aortic aneurysm familial thoracic type 6
Loeys-Dietz syndrome type 1A; Furlong syndrome; Loeys-Dietz aortic aneurysm syndrome (LDS1A, LDS1)
Loeys-Dietz syndrome type 1B (LDS1B)
Loeys-Dietz syndrome type 2A (LDS2A)
Loeys-Dietz syndrome type 2B (LDS2B); Marfan syndrome type 2
General
aortic aneurysm
genetic disease of blood vessels