Marfans Syndrome

Question 1

What causes Marfan’s Syndrome?

Answer 1

An autosomal inherited mutation in the fibrillin 1 gene on 15q11 leading to absent or abnormal fibrin

Question 2

What are the cardiac effects of marfans syndrome?

Answer 2

Dilatation of the aortic root at the sinus of valsalva lead to:
Aneurysm - Dissection

Also Mitral Valve Prolapse (but thats included in systemic score

Question 3

What is needed for a Marfan’s Diagnosis?

Answer 3

2 of the following:

• Systemic Score of atleast 7
• Eye involvement (Ectopia Lentis)
• FH
• +ve Gene test for 15q11 Fibrillin 1 Mutation
• Cardiac involvement (>normal aortic root dilatation, aneursym or dissection)

Question 4

What are the features of the systemic score?

Answer 4

Face - Pneumothorax - Dural Ectasia - Protrusio Acetabuli - Scoliosis/Kyphosis - Pectus Excavatum/Cavitanatum - Striae - Myopia (short sight) - Ankle Deformity - Thumb sign - Wrist sign - Reduced Elbow Extension - Flat Feet - Upper limb span > Height - Mitral Valve prolapse

Question 5

What do we call a systemic score of 5 or 6?

Answer 5

MASS phenotype

A Marfans like Syndrome with minor Skeletal Involvement.

Question 6

What tests do we do for Marfans?

Answer 6

Echo mandantory to check aortic root
MRI - Dural Ectasia
Pelvic X-ray - Protrusio Acetabuli
Genetic Test

Question 7

When would we do a genetic test of pelvic X-ray?

Answer 7

When a +ve result would change the diagnosis

Question 8

How do we treat Marfans?

Answer 8

• Annual Echo review of aortic Root
• Aortic Root monitoring during pregancy (intervene if >4cm)
• Slow Rate of Dilatation with B blockers and ARB
• Prophyllactic Surgery

Question 9

When would we do prophyllactic surgery on Marfans?

Answer 9

IF they had a sinus of valsalva >5.5cm or growing at 5%/yr

Question 10

Mechanical valve replacement vs valve sparing procedure?

Answer 10

Mechanical - Needs Warfarin forever

Valve Sparing - May need re-operated