Marfan's Syndrome

Question 1

What is Marfan’s syndrome?

Answer 1

Marfan Syndrome is a genetic disorder that affects the body’s connective tissue, which provides strength and flexibility to structures like the heart, blood vessels, bones, joints, and eyes.

Question 2

What gene is there a mutation in causing Marfan’s syndrome?

Answer 2

It is caused by mutations in the FBN1 gene, which affects the production of fibrillin-1, an essential protein for connective tissue integrity.

Question 3

What type of inheritance pattern is marfan’s syndrome?

Answer 3

Autosomal Dominant

Question 4

What are features of Marfan’s syndrome?

Answer 4

Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures

Question 5

What cardiovascular events are patient’s with Marfan’s syndrome at risk of?

Answer 5

1. Aortic aneurysm and aortic dissection
2. Mitral Valve prolapse and regurgitation
3. Aortic valve issues
4. Increased risk of sudden cardiac death

Question 6

How does Marfan’s syndrome cause a risk factor for aortic aneurysm and dissection?

Answer 6

The aorta, the main artery carrying blood from the heart, becomes weakened and stretches (dilates) over time.

This can lead to an aortic aneurysm (bulging of the aorta), increasing the risk of aortic dissection (a tear in the aortic wall).

Aortic dissection is a medical emergency and can cause internal bleeding, shock, or sudden death.

Question 7

How does Marfan’s syndrome cause a risk factor for mitral prolapse and regurgitation?

Answer 7

The mitral valve, which separates the left atrium and left ventricle, may become loose and floppy due to weak connective tissue.

This can lead to mitral valve prolapse (MVP), where the valve does not close properly.

As a result, blood leaks backward (mitral regurgitation), causing symptoms like fatigue, shortness of breath, and irregular heartbeats (palpitations).

Question 8

How does marfan’s syndrome cause aortic valve issues?

Answer 8

As the aortic root (where the aorta connects to the heart) dilates, it can affect the aortic valve, leading to aortic regurgitation (leakage of blood back into the heart).

This can cause heart enlargement, fatigue, and breathlessness.

Question 9

How may marfan’s syndrome lead to sudden cardiac death?

Answer 9

If aortic dissection occurs, it can rapidly lead to heart failure or fatal bleeding.

Irregular heart rhythms (arrhythmias) may also occur due to structural abnormalities.

Question 10

What other systems/conditions are a complication of Marfan’s syndrome?

Answer 10

lungs: repeated pneumothoraces
eyes:
upwards lens dislocation (superotemporal ectopia lentis)
blue sclera
myopia
dural ectasia (ballooning of the dural sac at the lumbosacral level)

Question 11

How is Marfan’s syndrome managed?

Answer 11

✅ Medications:

Beta-blockers (e.g., propranolol) or angiotensin receptor blockers (ARBs) (e.g., losartan) to reduce stress on the aorta.

✅ Regular Monitoring:

Echocardiograms to track aortic size and heart valve function.

MRI or CT scans if the aorta is at risk of dissection.

✅ Lifestyle Modifications:

Avoid heavy lifting, contact sports, or intense physical exertion that can strain the heart.

✅ Surgery (If Needed):

Aortic root replacement if the aorta becomes dangerously enlarged.

Mitral valve repair/replacement if there is severe mitral regurgitation.