Marfan's

Question 1

what is marfan’s?

Answer 1

autosomal dominant connective tissue disorder
caused by defect in fbn1 gene in chromosome 15
codes for fibrillin-1

Question 2

prev of marfan’s?

Answer 2

1 in 3000

Question 3

features of marfarn’s?

Answer 3

tall + arm span:height >1.05
high arched palate
arachnodactyly
pectus excavatum
pes planus
scoliosis > 20 degrees
organ-specific effects

Question 4

effects of marfan’s on the heart?

Answer 4

dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse (75%),

Question 5

effect of marfan’s on the lungs?

Answer 5

repeated PTX

Question 6

effect of marfan’s ont he eyes?

Answer 6

upwards lens dislocation (superotemporal ectopic lentis)
blue sclera
myopia

Question 7

effect of marfan’s on the spine?

Answer 7

scoliosis > 20 degrees
dural ectasia (ballooning of the dural sac at the lumbosacral level)

Question 8

life expectancy of marfan’s?

Answer 8

used to be 40-50, but with regular ECHO monitoring and beta-blocker/ACEi therapy, improved

Question 9

leading cause of death in marfan’s?

Answer 9

aortic dissection and other cv problems

Question 10

most important ix to monitor in marfan’s?

Answer 10

echocardiography