MARFAN'S SYNDROME

Question 1

What is Marfan’s syndrome and what genes/crhomosome is it caused by?

Answer 1

an autosomal dominant connective tissue disorder. It is caused by a defect in the FBN1 gene on chromosome 15 that codes for the protein fibrillin-1.

Question 2

features

Answer 2

tall stature with arm span to height ratio > 1.05

high-arched palate

arachnodactyly

pectus excavatum

pes planus

scoliosis of > 20 degrees

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

lungs: repeated pneumothoraces

eyes: upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia

dural ectasia (ballooning of the dural sac at the lumbosacral level)

Question 3

life expectancy

Answer 3

40-50 years

Question 4

leading cause of death

Answer 4

aortic dissection

Question 5

mx

Answer 5

advent of regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy