Marfans

Question 1

How is Marfans inherited?

Answer 1

Autosomal dominant

Question 2

What is the defect that is inherited in Marfans

Answer 2

Fibrillin (on chromosome 15)

Question 3

How do you examine someone with suspected Marfans

Answer 3

Inspect
- Tall features
- Arachnodactyly
- spindly fingers
- hyperextensible joints

Aortic regurg - check for collapsing pulse
R-R delay - dissection

Eyes - upward lens dislocation

Mouth for high arched palate

Neck - Raised JVP

heart - HS I+II+ EDM

Chest - PTX risk
Pectus carinatum or excavatum

Abdomen - Palpate aorta

Measure arm span compared to height

Achilles and Pes planus (flat feet)

Question 4

In the cardiology clinic they do echos - when do they get concerned about root dilatation

Answer 4

> 50mm needs referral
45 plus family history of dissection
3mm/yr growth