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Marfan Syndrome

Marfan syndrome is a genetic condition that affects connective tissues in the body. It can be passed down from parents to children and affects different people to varying degrees, causing symptoms like tall stature, heart issues, eye problems, and skeletal abnormalities. While there is no cure, treatment focuses on managing symptoms and risks, such as using beta-blockers or surgery to address heart or blood vessel complications. Regular monitoring by a team of specialists is also important to catch any developing issues.

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Atheer Alenzi
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138 views4 pages

Marfan Syndrome

Marfan syndrome is a genetic condition that affects connective tissues in the body. It can be passed down from parents to children and affects different people to varying degrees, causing symptoms like tall stature, heart issues, eye problems, and skeletal abnormalities. While there is no cure, treatment focuses on managing symptoms and risks, such as using beta-blockers or surgery to address heart or blood vessel complications. Regular monitoring by a team of specialists is also important to catch any developing issues.

Uploaded by

Atheer Alenzi
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
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Marfan syndrome - why does

division go wrong?

By: Rawan Hassan Suleiman Al-Massoudi


Dr. Wiam Al-Obaidan – Dr. Ruua Al-Mahlawi
Summary:
Marfan syndrome is a condition of the body's connective tissues, which
are a collection of tissues that keep the body's structure and support
internal organs and other tissues.
The disease is frequently passed down to children from one of their
parents.
Marfan syndrome affects some people lightly, while others acquire
more severe symptoms.

Symptoms:

Because the condition affects so many various regions of the body, the signs and
symptoms of Marfan syndrome can vary widely, even among members of the same
family. Some people only have minor side effects, while others
acquire life-threatening issues.

Characteristics of Marfan syndrome may include:

-A tall and thin form

-A breastbone that protrudes outward or dips inward

-A high, arched mouth and crowded teeth

-Heart murmurs

-Extreme nearsightedness

-An unnaturally bent spine

-Flat feet

Causes:
Marfan syndrome is caused by a mutation in the gene that codes for a protein that
helps connective tissue retain its elasticity and strength.
The faulty gene is inherited by the majority of persons with Marfan syndrome from a
parent who has the illness. Each afflicted parent's child has a 50/50 chance of
receiving the faulty gene. The defective gene originates from neither parent in

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around 25% of patients with Marfan syndrome. In some circumstances, a new
mutation appears on its own.

Risk elements:
Marfan syndrome affects both males and women equally and affects people of all
races and ethnicities. Because Marfan syndrome is a hereditary ailment, having a
parent with the disorder is the highest risk factor. The parent has a 50/50 probability
of acquiring the faulty gene. The defective gene originates from neither parent in
around 25% of patients with Marfan syndrome. In some circumstances, a new
mutation appears on its own.

Marfan syndrome treatment:


" Because there is no cure for Marfan syndrome, therapy focuses on symptom
management and lowering the risk of consequences.
Because Marfan syndrome affects so many different sections of the body, you will be
treated by a multidisciplinary team of healthcare specialists.
You will be continuously followed, and any issues that arise will be handled.
If the heart and the aorta, the body's major artery, are extensively compromised by
Marfan syndrome, a catastrophic issue might ensue. This can result in a shorter life
expectancy.

❖ Heart and blood vessel problems

About 90% of people with Marfan syndrome develop changes in their heart and blood
vessels. Changes that can develop include:

• Aortic aneurysm. The walls of the aorta, the major artery that carries blood from
the heart to the rest of your body, become weak,
bulge out and could rupture (burst). This happens
most commonly at the aortic root (the point where
the aortic artery leaves the heart).
• Aortic dissection. This is a tear in the inner layer of
the three wall layers of the aorta. The tear allows
blood to enter the middle layer, which extends the
tear and leads to a further separation and possibly
wall rupture. This can be fatal.
• Heart valve problems. Marfan syndrome can cause
valve tissue to become weak and stretch. This leads
to valves that don’t close tightly, causing leaks and backflow of blood. The heart

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often has to work harder when valves aren’t working properly. The mitral valve is
commonly affected.
• Enlarged heart. The heart muscle may enlarge and weaken over time,
causing cardiomyopathy, even if the heart valves are not leaking. The condition
may progress to heart failure.
• Abnormal heart rhythm. Arrhythmia can occur in some people with Marfan
syndrome. It’s often related to mitral valve prolapse.
• Brain aneurysms. People with Marfan may have a history of intracranial (inside the
skull) bleeding from a ruptured brain aneurysm.

❖ How is Marfan syndrome treated?


If you have Marfan syndrome, you will need a treatment plan that is specific to your health
issues. Some people may not need any treatment — just regular follow-up appointments
with their healthcare provider. Others may need medications or surgery. The approach
depends on which body parts are affected and the severity of your condition.

❖ Medications
Medications are not used to treat Marfan syndrome, but they may be used to prevent or
control complications. Medications may include:

• Beta-blockers: Beta-blockers improve your heart’s ability


to relax, and decrease the forcefulness of the heartbeat
and the pressure within the arteries. This prevents or
slows down the enlargement of the aorta. Beta-blocker
therapy should begin at an early age. If you can’t take
beta-blockers because of asthma or side effects, your
provider can prescribe a calcium channel blocker.
• Angiotensin receptor blockers: Angiotensin receptor
blockers (ARB) are used to treat high blood pressure and
heart failure. Recent clinical trials have shown that ARBs
help slow the enlargement of the aorta as well as beta-
blockers do.

References:
1) https://www.nhs.uk/conditions/marfan-syndrome/
2) https://www.mayoclinic.org/ar/diseases-conditions/marfan-syndrome/symptoms-
causes/syc-20350782
3) https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome

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