11 - CT disorders 2

Question 1

3 main causes of thoracic aortic aneurysm

Answer 1

monogenic - Marfans, Loeys Dietz, FTAAD
2/2 bicuspid aortic valve
sporadic - in older pts

Question 2

percent of Marfan’s due to de novo mutation

Answer 2

25%

Question 3

2 cardinal features of marfan’s

Answer 3

aortic root aneurysm and ectopia lentis

Question 4

gene mutated in marfan’s

Answer 4

FBN1 (fibrillin) - mostly missense

Question 5

neonatal Marfan’s

Answer 5

causes death within first yrs of life
due to mutation in middle of gene
all de novo, b/c don’t reach reproductive age

Question 6

Loeys Dietz syndrome

Answer 6

AD - mutation in TGFBR1/2, SMAD3, or TGFB2
aneurysms (can be aortic, cerebral)
pectus, scoliosis, joint laxity, arachnodactyly, talipes equinovarus
bifid uvula**, cleft palate
easy bruising, translucent skin

Question 7

gene assoc w/ vascular EDS

Answer 7

COL3A1