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Marfan Syndrome

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Marfan Syndrome
Alton Giant
What is Marfan Syndrome?
• What's Marfan syndrome? The Marfan syndrome is a
heritable condition that affects the connective tissue.
The primary purpose of connective tissue is to hold the
body together and provide a framework for growth and
development. In the Marfan syndrome, the connective
tissue is defective and does not act as it should. Because
connective tissue is found throughout the body, the
Marfan syndrome can affect many body systems,
including the skeleton, eyes, heart and blood vessels,
nervous system, skin and lungs.
Inheritance
•
•
Three out of every four people with marfan syndrome inherit the disorder from a
parent who also has the disorder. It can be passed down by the mother or father.
The child only needs to inherit one copy of the marfan mutation to develop the
syndrome, because the mutation is dominant. Even though normal fibrillin
interferes with it during the second copy of the gene, the irregular marfan fibrillin
interferes with it during microfibril production. This weakens ALL of the
microfibrils, and the child develops the symptoms of marfan syndrome. Though
they share the same mutation, the affected child and parent may have different
characteristics of the syndrome. In the remaining quarter of people with marfan
syndrome, neither parent has the disorder. These people develop the disorder when
one of their fibrillin genes spontaneously mutates before birth.
When one parent has a mutated “Marfan” gene, the chance of his/her child
inheriting the disorder is 50%.
Incident
• Marfan syndrome affects
both sexes and all ethnic
groups, but it is relatively
rare. About 1 in 5,000 people
are born with the disorder.
Every unborn child in the
world has a 1 in 10,000, or
0.01% , chance of getting
marfan syndrome through a
spontaneous mutation.
Diagnosis
•
Although the gene for the Marfan syndrome has been found, there is no simple blood test or skin biopsy to
make the diagnosis. The diagnosis needs to be made after examinations by a number of doctors, including a
doctor who specializes in bones (orthopedists), eyes (ophthalmologist) and heart (cardiologist), as well as a
medical geneticist (a doctor with special knowledge about inherited diseases). The exam includes:
•
* information about any family members who may have the disorder or who had an
early, unexplained heart-related death
•
* a thorough physical examination, including an evaluation of the skeleton for the ratio
of arm/leg size to trunk size and other changes that affect the bones and joints
•
* an eye examination, including a "slit lamp" evaluation by an eye doctor
(ophthalmologist) after fully dilating the pupil
•
* heart tests such as an echocardiogram (a sound-wave picture) by a heart doctor
(cardiologist) used to examine the heart valves and aorta.
•
•
One doctor should coordinate the findings from all examinations. The medical geneticist most commonly
handles this. The doctor may diagnose the Marfan syndrome if the patient has a family history of the
condition and there are specific problems in at least two of the body systems known to be affected. For a
patient with no family history of the disorder, at least three body systems must be affected before a diagnosis
is made. In addition, two of the systems must show clear physical signs that are relatively specific for the
Marfan syndrome.
Cause
• Marfan syndrome is a genetic disorder
caused by a mutation by a mutation in the
fibrillin gene. The misshappen fibrillin
produced from the mutated gene weakens
the tendons, ligaments, and other connective
tissues in the body.
Physical Symptoms
• 1. tall, thin stature with disproportionately long arms
• 2. unusally long lower half of body
• 3. long, double-jointed fingers, including an elongated
thumb
4. curvature of the spine
• 5. chest bone that curves either inward or outward
6. backward curves either inward or outward
7. flat feet
8. backward curve of the legs at the knee
9. nearsightedness (lenses of the eye are prone to
dislocation)
Physical Symptoms (cont.)
Treatment
• Treatment for cardiovascular problems is critical, and
the aorta must be monitored for weakness. Drugs can
help reduce the stress experienced by the aorta, but
surgery, maybe needed eventually to replace the
vessel. There is no cure for the Marfan syndrome.
However, a range of treatment options can minimize
and sometimes prevent complications. The appropriate
specialists will develop an individualized treatment
program; the approach the doctor uses depends on
which systems are affected.
Personal life
• Aggressive workout, couldn’t do certain sports,
couldn’t drink carbonated drinks, can’t smoke.
(One Blow you can die). The main issue was, that
after 30 years old you aren’t allowed to have
anymore children because the child could die
during childbirth. A mention before there is no
cure for marfan syndrome though there are
treatments.
Help please?
• http://www.marfanworld.org/
• http://www.marfan.org/nmf/index.jsp
• http://www.rarediseases.org/search/rdbdetail
_abstract.html?disname=Marfan%20Syndro
me
Research
•
Scientists are approaching research on Marfan syndrome from a variety of
perspectives. One approach is to better understand what happens once the
genetic defect or mutation occurs. How does it change the way connective
tissue develops and functions in the body? Why are people with Marfan
syndrome affected differently? Scientists are searching for the answers to these
questions both by studying the genes themselves and by studying large family
groups affected by the disease. Newly developed mouse models that carry
mutations in the fibrillin gene may help scientists better understand the
disorder. Animal studies that are preliminary to gene therapy are also under
way.
•
Other scientists are focusing on ways to treat some of the complications that
arise in people with Marfan syndrome. Clinical studies are being conducted to
evaluate the usefulness of certain medications in preventing or reducing
problems with the aorta. Researchers are also working to develop new surgical
procedures to help improve the cardiac health of people with Marfan
syndrome.
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