General Information

Marfan syndrome is a genetic disorder of the

connective tissue that can affect multiple body
systems including the heart and circulatory system;
skeleton, eyes, and lungs (Amy Kaplan). It can
present itself in a variety of ways, including varying
severity of symptoms that range from
inconveniencing to fatal. It is a result of a mutation
in which the fibrillin-1, which is a kind of
connective tissue, is bound to a growth factor beta,
causing heart, spinal, optic, nervous, and pulmonary
defects, most notably in regards to ones height. It is
named after Antoine Marfan, who was a pediatrician
who discovered the disease in 1896. Research and
understanding of the disease has greatly improved
since 1991, when Hal Dietz and Francisco Ramirez
discovered the gene that causes Marfans, known as
FBN1.

Symptoms

The majority of symptoms of Marfans Syndrome are easily spotted.
They can include:

Long arms, legs, fingers, and toes
A tall and thin body structure
Very flexible joints
A spine that curves to one side
Over-crowded teeth
Flat feet
A breastbone that either extends outward or retracts inward
Stretch marks that are unrelated to weight loss or gain

Other symptoms may be more difficult to detect including:

Heart murmurs
Severe nearsightedness
Lung collapse
Mitral Valve Prolapse (the flaps of the mitral valve in the heart are loose and do not close)
Aortic Aneurysm (the aorta stretches and begins to grow weaker)

If you notice any of these symptoms, it is critical that you immediately contact your doctor and
go onto The Marfan Foundation website to learn the facts.


Heredity


Marfans Syndrome is a dominant and autosomal trait, meaning
that someone who inherits the Marfans gene (FBN1) will
develop the disease and show symptoms. This also means that
for someone to have Marfans, one of his or her parents must
have had it as well. In the chart below, the black represents that
the person has Marfans, and white represents that one does not.
It is assumed that the grandmother is heterozygous, as are all
members of the family with Marfans, while the members
without are all homozygous recessive.






Living With Marfans


The extent to which Marfans Syndrome affects a persons life varies
greatly because Marfans is expressed differently with each unique case. The
range between how severe and mild this disorder can be is known as variable
expression; a term that ultimately means that Marfans can have different
effects on a person based on how it is expressed in their body. Although
Marfans Syndrome is a complicated and serious disorder, an early diagnosis
and effective treatment plan can allow for people with the disorder to live
longer and maintain their lifestyle. The most important actions that all people
living with Marfans Syndrome must do is have frequent and routine
meetings with their doctor, orthopedist and cardiologist.
Any doctor will recommend that a person affected by Marfans
Syndrome should refrain from participating in any strenuous physical
activities such as playing sports or doing rigorous workouts. This is because
Marfans Syndrome creates complications with the connective tissue in the
heart, so by avoiding difficult exercises, the heart can be more protected from
further issues. For people affected by Marfans disorder, it is also very
important to visit an orthopedist, who is a person who specializes in bones, so
that they can have their spine and breastbone analyzed by a specialist. This is
because Marfans often causes for a person to have a curved spine and a chest
that either sticks in or out so it is critical that a person get their bones checked
out at least once a year to ensure that their condition is not becoming worse.
It is also very crucial that a person with Marfans Syndrome visit a
cardiologist frequently so they can get their heart valves and aorta checked by
a specialist. The heart must be closely monitored because the aorta can
potentially enlarge and create a rupture due to faulty connective tissues,
which would be extremely detrimental for the person.
Because there is no cure for Marfans Syndrome, the most helpful steps
that any person can take are visiting specialists frequently to make sure that
their condition is under control. If not monitored, Marfans can become fatal
which is why all people living with Marfans Syndrome must be responsible
for their disorder. Living with Marfans Syndrome does not prevent people
from doing many of the activities they used to do, but it does require all
people affected by the disorder to become dedicated to seeing health care
specialists often in order to maintain their health.
Frequently Asked Questions

What are the symptoms of Marfan's disease?
The most prevalent symptoms of Marfan's disease are not necessarily
life threatening. The symptoms include having a tall and slender build,
abnormally long limbs, a breastbone that dips inward or outwards,
crowded teeth, heart murmurs, nearsightedness, abnormally curved
spine, and flat feet.
Are there any treatments for Marfan's disease?
Unfortunately, there is no cure for Marfan's disease but doctors treat
Marfan's from symptom to symptom. Doctors often prescribe
medications that lower blood pressure to prevent the aorta from
rupturing. For eye problems, patients often get glasses or have surgery
to repair the lenses on the eyes. To treat curved spine, doctors
recommend a back brace or in more serious cases, surgery.
What are the causes of Marfan's disease?
Marfan's disease is causes by a defective gene, which cases there to be
an excess amount of a specific protein. This protein gives the
connectivity tissue abnormal elasticity and strength.
How does someone cope with Marfan's disease?
Marfan's disease is a very hard disease to live with. Often in mild to
severe cases, the person has to undergo many surgeries for heart
problems and eye problems. Also, the person lives with excruciating
pain in the limbs but they cannot do anything about it.
Is the disease sex-linked or autosomal?
This disease is a recessive autosomal disease, meaning that both sexes
are equally likely to contract Marfans from the parent.
If one parent has the disease, what are the chances the offspring has it?
Marfans disease is dominant, which means that if one parent has it,
there is either a 50% or a 100% chance that their offspring will have it
as well, depending on whether the parent is homozygous or
heterozygous.
How does one get diagnosed for having Marfan's disease or being a carrier?
To determine if one has Marfan's disease, that person could take a look
at their symptoms and see if there is a match. Also, genetic tests are
available for people who suspect they are carriers that are available at
your local doctors office, or they will be able to locate one for you.
BIBLIOGRAPHY

For more information about Marfans Syndrome, go to www.marfan.org

"Marfan Syndrome and Aortic Disorders." Marfan Syndrome. Stanford Hospital, n.d. Web. 14
Nov. 2013. <http://stanfordhospital.org/cardiovascularhealth/marfan/>.
"Marfan World." International Federation of Marfan Syndrome Organizations. Web. 14 Nov.
2013. <http://www.marfanworld.org/>.
"Marfan - Home." Marfan Association. Web. 10 Nov. 2013. <http://www.marfan.ca/>.
"Marfan Syndrome: Medical Encyclopedia." Marfan Syndrome. U.S. National Library of
Medicine, n.d. Web. 16 Nov. 2013. <http://www.nlm.nih.gov/medlineplus/ency/>.
"Marfan Syndrome." The Marfan Foundation. N.p. Web. 10 Nov. 2013.
<http://www.marfan.org/>.