What is Marfan Syndrome(MFS)?? What cause Marfan Syndrome (MFS)? Physical characteristic of MFS in people. Diagnosis of Marfan Syndrome. Treatment of Marfan Syndrome. Famous people with Marfan Syndrome.

1. MARFAN SYNDROME
PREPARED BY: SULTAN MUJIB (DABIRY)

2. OBJECTIVES:
• What is Marfan Syndrome(MFS)??
• What cause Marfan Syndrome (MFS)?
• Physical characteristic of MFS in people.
• Diagnosis of Marfan Syndrome.
• Treatment of Marfan Syndrome.
• Famous people with Marfan Syndrome.

3. WHAT IS MARFAN SYNDROME?
Marfan syndrome is a genetic disorder that affects the body’s connective tissue.
-Connective tissue are those tissues which holds all the body’s cells, organs and tissue together.
It also plays an important role in helping the body grow and develop properly.
People with Marfan's tend to be tall, and thin, with long arms, legs, fingers and toes. They also
typically have flexible joints and curvature of spine. The most serious complications involve the
heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other
commonly affected areas include the lungs, eyes, bones, and the covering of the spinal cord.

4. WHAT CAUSE MARFAN SYNDROME?
• Marfan is an autosomal dominant disorder. About 75% of the
time the condition is inherited from a parent while 25% of the
time it is a new mutation.
• The protein that plays a role in Marfan syndrome is called
fibrillin-1. Marfan syndrome is caused by a defect (or
mutation) in the gene that tells the body how to make
fibrillin-1. This mutation results in an increase in a protein
called Transforming Growth Factor Beta, or TGF-β. The
increase in TGF-β causes problems in connective tissues
throughout the body, which in turn creates the features and
medical problems associated with Marfan syndrome and
some related disorders.

5. PHYSICAL TRAITS IN PEOPLE WITH MARFAN
SYNDROME:
People with Marfan syndrome may have:
• A tall, thin body build.
• Long arms, legs, fingers, and toes and
flexible joints.
• Scoliosis, kyphosis or curvature of the spine.
• A chest that sinks in or sticks out.
• Crowded teeth.
• Flat feet.

6. HOW IS MARFAN SYNDROME DIAGNOSED?
It can be diagnose by these tests:
• Echocardiogram. This test looks at your heart, its valves, and the aorta.
• Electrocardiogram. This test checks your heart rate and heart rhythm.
• An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place.
• Other tests, such as a (CT) scan or (MRI) of the lower back. These tests can help your doctor see if you
have a back problem that is very common in people with Marfan syndrome called dural ectasia.

7. WHAT IS THE TREATMENT?
• There is no cure for Marfan syndrome. Many people have a normal life with Marfan Syndrome.
• If it create some problems for patient then they should meet their doctors.
• Medications are typically not used to treat Marfan syndrome. However, your doctor may prescribe a
beta-blocker, which preventing or slowing the enlargement of the aorta. Beta-blocker therapy is usually
started when the person with Marfan syndrome is young.
• Some people are unable to take beta-blockers because they have asthma or because of the
medication's side effects, in these cases, another medication called a calcium channel blocker may be
recommended.
• The goal of surgery for Marfan syndrome is to prevent aortic dissection or rupture and to treat
problems affecting the heart's valves, which control the flow of blood in and out of the heart and
between the heart's chambers.

8. THE FAMOUS PEOPLE WHICH WITH MARFAN
SYNDROME:
• Bin Laden: The mastermind behind Al Qaeda.
• Abraham Lincoln: The former US president.
• Niccolò Paganini: The Italian composer and violinist.
• Michael Phelps: The 22 time swimming medalist.

9. THANKS FROM YOUR ATTENTION
Any Question?