Marfan's syndrome

Question 1

Inheritance

Answer 1

autosomal dominant

Question 2

genetic component

Answer 2

FBN1 gene
chromosome 15
codes for the protein fibrillin-1

Question 3

Describe the physical manifestations of Marfans which may be noticeable when examining a patient

Answer 3

tall stature with arm span to height ratio > 1.05
high-arched palate
arachnodactyly
pectus excavatum
pes planus
scoliosis of > 20 degrees

Question 4

Cardiac associations

Answer 4

dilation of the aortic sinuses (90%)
=> aortic aneurysm, aortic dissection, aortic regurgitation

mitral valve prolapse (75%)

Question 5

Respiratory associations

Answer 5

recurrent pneumothorax

Question 6

Ophthalmic manifestations of Marfans

Answer 6

upwards lens dislocation (superotemporal ectopia lentis)
blue sclera
myopia

Question 7

Leading cause of death in Marfans patients

Answer 7

Aortic dissection and other cardiovascular problems
=> important to have regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy