Marfan Syndrome
By ______________________
A genetic disorder is defined as “a disease or condition caused by an absent or
defective gene or by a chromosomal aberration.” (American Heritage Dictionary). When
DNA is replicated, sometimes there are mistakes called mutations. Sometimes these
mutations do nothing to an organism. Sometimes these mutations lead to a beneficial
trait that will give an organism a survival advantage and this can lead to evolution.
However, sometimes these mutations have dangerous and potentially fatal results, and
it will be labeled a genetic disorder or disease.
There are many genetic disorders that people suffer from around the world.
Some, like Down Syndrome and cystic fibrosis, have become the focus of not for profit
agencies to raise money for scientists to find treatments and cures for. Others, like
albinism and abetalipoproteinemia, are very rare and there is not a whole lot known
about them. Still others, like Marfan Syndrome which will be the focus of this paper, are
more common than what doctors first believed but are manageable with all of the
advances in modern medicine.
What is Marfan Syndrome?
Marfan syndrome is a genetic disorder that effects the connective tissues
throughout the body. It also helps control how you grow and develop. Since connective
tissue is responsible for helping to support organs, blood vessels, bones, joints, and
muscles, it can be thought of as the “glue” that holds it all together. When a person has
Marfan’s syndrome, this glue is weaker than a normal person. This is because the gene
that is responsible for coding for the protein fibrillin is defective, making the connective
tissues too weak to do their job.
This weakened connective tissue can lead to many problems in the body. The
areas that are most affected by Marfan syndrome are the heart, eyes, and joints.
People with this genetic disorder often have very loose, flexible joints as a result of the
problems with the connective tissue. (KidsHealth)
How does someone get Marfan Syndrome?
Marfan syndrome is rare: only 1 in every 5,000 people are affected by the
disorder at varying degrees. Since it is a genetic disorder, it is caused by a mutation on
a chromosome that happens prior to a baby’s development. This mutation is found on
chromosome 15 and has changed the genetic code needed to make fibrillin. Since the
mutation happens early, all cells that are made from the first defective cell will have the
same mutation when the DNA is replicated during mitosis. Families that have Marfan
syndrome in their histories may want to have an amniocentesis done prior to a baby
being born in order to prepare themselves for raising a child with the disease.
Around 75% of the time, the gene for Marfan syndrome is passed down through
generations within a family. “A child born to a parent who has Marfan syndrome has a
50% chance of having the disease too.” (KidsHealth) The other 25% of cases are from
a genetic mutation in the sperm or egg of a parent at the time of conception.
What are signs and symptoms of Marfan Syndrome?
People who have Marfan syndrome share very specific characteristics. The
biggest affect is on the long bones in the body. People with Marfan syndrome often
have traits such as

A tall, thin build.

Long arms, legs, fingers, and toes and flexible joints.

A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis).

A chest that sinks in or sticks out. These conditions are called pectus excavatum
(eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively.

Teeth that are too crowded.

Flat feet (NIH)
Many people who have Marfan syndrome will have many if not all of the above traits.
Additionally, Marfan syndrome can cause serious complications with the heart and
blood vessels. The aorta, the blood vessel that provides the body with the oxygen rich
blood it needs to survive, can become weak. This leads to conditions known as aortic
dilation or aortic aneurysm.
How is Marfan Syndrome treated?
Like most genetic diseases, there is no cure for Marfan syndrome. However,
there are treatments that can delay or prevent serious, life threatening complications.
Marfan syndrome can be treated medically or surgically.
Medical treatments for Marfan syndrome include a restriction on physical activity,
treatment with beta blockers, ACE inhibitors, MMPs (medications), and
echocardiography, a procedure where the doctor will look at a picture of the heart, each
year. Depending on what is most affected by the disease, some people will receive
hormone therapy or TGFβ gene therapy to stimulate the production of fibrillin in the
body.
If the disease is severe or life threatening, a person may also consider surgery.
If it affects the heart, a person may have cardiovascular surgery to repair damage to the
heart. If the condition affects the spinal cord or spinal column, a condition known as
scoliosis, then they will have surgery to help fix the spine. If Marfan syndrome affects
the thorax, a person may have surgery to fix it so that a person can breathe better. If it
affects the person’s eyes, the person may simply need to wear glasses or lasers can be
used to fix problems like a detached retina. (Emedicine).
Who discovered Marfan Syndrome?
Marfan syndrome is named after Antoine Marfan, the French doctor who first
described the disorder in 1896. This pediatrician was the first to notice and document
symptoms when treating a 5 year old girl. As more cases showed up over time, the
genetics community spent more time trying to identify what in the genetic code was
causing the disease. It was not until 1991 at Mount Sinai Medical Center in NYC that a
researcher named Francesco Ramirez was able to isolate the location in the human
genome, chromosome 15, that the disease originated from.
As shown, Marfan syndrome might be rare, but it can have long lasting effects,
especially in families since it is most often passed from parent to offspring. This
mutation of chromosome 15 can range from mild to severe but luckily there are many
options on how to treat and manage the disease. Hopefully with more time, scientists
can develop a form of gene therapy or a treatment that may offer a cure. In the
meantime, families that have Marfan syndrome in them may want to consult a genetics
councilor before having children.
Works Cited
American Heritage. American Heritage Science Dictionary . New York: Houghton
Mifflin Company. 2005
Chen, Harold. “Genetics of Marfan Syndrome Treatment and Management.”
Emedicine. 2013. <http://emedicine.medscape.com/article/946315-treatment#a1128>
NIH. “Marfan Syndrome.” National Blood, Heart, and Lungs Institute. 31 July 2013.
<https://www.nhlbi.nih.gov/health/health-topics/topics/marfansyndrome/>
KidsHealth. “Marfan Syndrome.” Nemorus Foundation. 1995-2014
<http://kidshealth.org/parent/medical/heart/marfansyndrome.html>