Marfan Syndrome

Question 1

How is Marfan Syndrome inherited?

Answer 1

Autosomal Dominant

Question 2

What gene is affected in Marfan?

What protein does this code for?

Answer 2

FBN1 gene- codes for the fibrillin-1 protein which is important for connective tissues

Question 3

Name 8 MSK features of Marfan Syndrome

Answer 3

1. Bone overgrowth= long extremities
2. Increased arm span to height ratio
3. Decreased upper to lower segment ratio
4. Scoliosis
5. Joint laxity
6. Pes planus (flat feet)
7. Thumb sign and wrist sign
8. Pectus excavatum or carinatum

Question 4

Name 3 ophtho features of Marfan

Answer 4

1. Myopia
2. Lentis ectopia (60%)
3. Risk of retinal detachment

Question 5

Name 4 cardiac features of Marfan Syndrome

Answer 5

1. Dilated aortic root +/- aortic aneurysm
2. Risk of aortic tear/dissection
3. MV proplapse
4. Tricupsid valve prolapse

Question 6

Name 1 respiratory complication of Marfan Syndrome

Answer 6

1. Apical blebs w associated risk for spont pneumothorax

Question 7

Name 7 facial features associated w Marfan Syndrome

Answer 7

1. Dolicocephaly
2. Malar hypoplasia
3. Enopthalmos
4. Retrognathia
5. Down-slanting palpebral fissures
6. High arched palata
7. Crowding of teeth

Question 8

How do we diagnose Marfan Syndrome?

Answer 8

Clinical diagnosis, that can be confirmed with genetic testing.

Question 9

Name 3 General Management strategies for individuals with Marfan Syndrome

Answer 9

1. Eye exam annually (rarely need lens replaced)
2. Echocardiogram annually, also do in relatives suspect to have Marfans
3. Avoid contact sports or activities that may cause joint injury.