Marfan Syndrome

Question 1

Is Marfan autosomal dominant or recessive?

Answer 1

Dominant

Question 2

in Marfan syndrome, there is a ___ mutation leading to decreased connective tissue tensile strength

Answer 2

FB1 (fibrillin, an important component of connective tissue)

Question 3

What are symptoms of Marfan syndrome?

Answer 3

“Marfan’s body habitus”:
Tall and thin
Long fingers (arachnodactyly)
Pectus excavatum (sternum caves in centre)
Pectus carinatum (sternum pokes out in centre)

Aortic complications:
Aortic regurg murmur
AAA
Aortic dissection

Question 4

How do you diagnose Marfan syndrome?

Answer 4

Clinical presentation and FBN-1 mutation

Question 5

What are associated conditions to Marfan syndrome?

Answer 5

Lens dislocation in the eye
Joint dislocations and pain due to hypermobility
Scoliosis
Pneumothorax
Reflux
Aortic aneurysm
Mitral valve prolapse
Aortic valve prolapse

Question 6

How is Marfan’s managed?

Answer 6

Greater risk of CV complications.
Aim to maintain blood pressure low and heart rate to minimise stress on heart.

Avoiding intense exercise, avoiding caffeine and other stimulants.

Physio to help strengthen joints

Genetic counselling

Yearly echocardiograms and review by ophthalmologist

Question 7

True or false: features of Marfan syndrome include a high arch palate and an increased arm span to body height ratio

Answer 7

True