Marfans Syndrome Flashcards

1
Q

What causes Marfan’s Syndrome?

A

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

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2
Q

What are the cardiac effects of marfans syndrome?

A

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

Also Mitral Valve Prolapse (but thats included in systemic score

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3
Q

What is needed for a Marfan’s Diagnosis?

A

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)

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4
Q

What are the features of the systemic score?

A

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

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5
Q

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

A

MASS phenotype
A Marfans like Syndrome with minor Skeletal Involvement.

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6
Q

What tests do we do for Marfans?

A

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

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7
Q

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

A

When a +ve result would change the diagnosis

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8
Q

How do we treat Marfans?

A
  • 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
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9
Q

When would we do prophyllactic surgery on Marfans?

A

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

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10
Q

Mechanical valve replacement vs valve sparing procedure?

A

Mechanical - Needs Warfarin forever
Valve Sparing - May need re-operated

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