Bryan 1
Caitlynn Bryan
Erin Schubach
8th Grade Research
12 February 2015
Marfan Syndrome
Marfan Syndrome is a syndrome that affects many people’s lifestyle, heart, joints, bones,
and many other things all due to the breaking down of connective tissue, which provides
strength, structure, and support to mostly all body parts. A defect in a gene that tells the body to
make fibrillin-1 is what causes Marfan Syndrome. Fibrillin-1 is a type of protein and if it has a
defect it can cause many problems with the body and the body’s functions (“What is Marfan
Syndrome?”). Early treatment is very important for a patient with Marfan Syndrome in order to
help stop major problems from occurring. Marfan Syndrome is a life-threatening syndrome and it
cannot be cured.
The signs and symptoms of Marfan syndrome include long limbs, detached eye lenses,
stretch marks, sunken in chest, crowded teeth, and a tall, slim figure. (“What are the signs?”).
Long limbs include fingers, legs, toes, and arms. Having long limbs is caused by the connective
tissue separating or tearing and allowing the body to stretch out more than it would normally.
Most of time the stretch marks are an effect of the long limbs and they are usually found on the
back, stomach upper arm, or upper leg. The sunken in chest is a sign caused by the connective
tissues in the chest slowly separating and not being able to support the bones in a person’s chest.
Once they cannot support the bones, the bones sink in. This also can cause other problems with
the chest and lungs. This sign is referred to as Pectus Excavatum (“What are the signs?”).
Crowded teeth are a sign caused by the usual abnormal arch in a Marfan Syndrome carrier’s
mouth, which is also another sign of Marfan Syndrome. A tall and slim figure is caused by the
Bryan 2
connective tissue separating and making the body look as if it is stretched out. All of these signs
are usually easy to detect, although other signs are not as easy to see. Such as the signs dealing
with the heart, for example, leaking of the heart valves. This is caused by the connective tissue
(that helps support the valves) separating, making the valves weak and able to leak out blood.
The main valve this happens to is the Mitral valve (“How is the Body affected?”). Doctors
usually are able to strengthen the stableness of this valve before it begins to leak, but if not, that
person will most likely have more surgery done on them in the future. Knowing and realizing all
of the signs of Marfan Syndrome, can help save a person’s life.
Some people with Marfan Syndrome have different symptoms and effects than others.
For example some people may not even have bone problems while others have many problems
with it. Scientists are researching to find out why the symptoms are different on certain people
and they have not found a definite reason yet.
Marfan Syndrome is usually an inherited syndrome. Although it is inherited, it is very
rare. Only one in five thousand people have Marfan Syndrome. You may have heard of some
famous people having Marfan Syndrome. Austin Carlile, from the heavy metal band Of Mice &
Men, has Marfan Syndrome. His mother died at the age of thirty-three when Austin was only
seventeen and later on it was found that she had the syndrome. Austin was torn, but soon after
this tragedy he was tested for Marfan Syndrome. This test came back positive. Austin has to
watch over himself carefully, especially since he is the screamer of the band. He has even quit
the band for a period of time due to his problems with having Marfan Syndrome (“Of Mice &
Men Vocalist Quits Under Laboring Health Issues”). Another person that almost everyone has
heard of is Abraham Lincoln, the 16th president of the United States. That is what explains his
tall, thin stature (“Famous People With Marfan Syndrome”). Men and women from all different
Bryan 3
cultures and ethnic groups can have Marfan Syndrome. There are many tests that doctors can do
to know if they need to diagnose a person or not. These tests include an echocardiogram, an
electrocardiogram, or even an eye exam can tell a doctor if a person has Marfan Syndrome
(“Getting Diagnosed”). An echocardiogram looks at a person’s heart, heart valves, and the aorta.
An electrocardiogram is a test that looks at the hearts rate and rhythm. An eye exam can help a
doctor tell if the eye lenses are detached, which is a sign of Marfan Syndrome. All three of these
tests help doctors a lot when trying to see if a person has this syndrome or not, although these
tests are not just done on people. The doctor usually has a reason behind checking a person for
the syndrome. Either the doctor has seen a few signs of Marfan Syndrome on the person or the
syndrome runs in their family. The signs, surprisingly, are noticeable at birth. If a doctor sees any
of the signs they will automatically run tests on the child and if they have the syndrome they will
diagnose them (“Getting Diagnosed”).
People with Marfan Syndrome have many inconveniences throughout their life.
Pregnancy is a very big one. Women with Marfan Syndrome have a very large amount of risks
when it comes to having a child. Having a child in your body can put an increasing amount of
stress on the heart and blood vessels (“Pregnancy”). This can cause further and more serious
problems with the women’s heart. Just having Marfan Syndrome its self already puts a great
amount of stress on the heart. Another risk of pregnant women is handling the possibility of their
child inheriting Marfan Syndrome from them. This can be and usually is an emotional topic.
Most people with Marfan Syndrome are told by doctors to not play very active sports.
This is because when you run or exercise it brings up your heart rate. When a person with
Marfan Syndrome gets their heart rate up, it can cause problems with the heart. Although doctors
also tell them not to stop exercising because everyone, even Marfan patients benefit from it, but
Bryan 4
they are told to avoid harsh physical contact in order to not to damage the aorta (“Why can’t
people with Marfan Syndrome play contact sports?”).
Effects of Marfan Syndrome can get pretty scary. One effect is sudden collapsing of the
lungs. This is caused by the lungs lacking support from connective tissues. This is an effect that
is not very common but it does require serious medical treatment until the person is stable again
(“What are the Effects?”). Other effects include severe near sidedness, early glaucoma, early
cataracts, asthma, and sleep apnea. All of the effects linked to the eyes are caused by the
connective tissue in the eyes breaking down. When it breaks down, it causes sight loss. The
effects associated with breathing are caused by connective tissue in the lungs separating and
weakening. Although these effects are scary, there are hardly any people that have Marfan
Syndrome and do not have them.
Effects and symptoms of Marfan Syndrome are progressive. This means that as Mafan
syndrome patients’ age, the symptoms may worsen. This includes bone aches, back pains, stretch
marks, eye sight, and the ability to breath normal. The cause of this progression is the same as
any syndrome that involves the breaking down of tissue, as you age the connective tissue
separates and breaks down even more. Therefore as you age and the syndrome worsens, the
symptoms and effects will also (“Aging with Marfan Syndrome”).
The life expectancy of a Marfan Syndrome patient is higher now than it was when the
syndrome first was discovered. When it was first discovered in 1896, the expectancy was 32
years of age. That, today is considered a young age. Since the technology and medications of
doctors has improved of the years, it has gone up drastically. Now the life expectancy is a normal
life span up to 80 years of age (“Aging with Marfan Syndrome”). Although, if you do not receive
proper medical treatment, you may not live up to that expectancy. That’s why it is recommended
Bryan 5
to go to the doctor when needed. Even if you do not think it is necessary, you still need to be
checked out regularly.
This Syndrome almost always leads the person to having to get surgery done. There are
different types of surgery done for different reasons, but the main thing that has surgery done on
it is the heart. The surgeries on the heart are usually aimed at preventing a heart rupture
(“Surgical and other procedures”). Rupture occurs when the hearts tissue tears. A rupture is a bad
problem to deal with. It is caused by the weakening of the tissue that makes up the heart.
(“Medical Dictionary”). Surgeons can do a surgery that goes into the heart and in a way sews
parts of the heart that may be beginning to tear. This strengthens the heart and makes it less
likely for the person to have rupture. Others surgeries done on the heart may be to reattach valves
that are tearing or leaking, or to repair the aorta (“Surgical and Other Procedures”). When having
surgery for these problems, open heart surgery is usually the type of surgery done in order to get
to where most of the problems occur. Open heart surgery is said to be a very dangerous
procedure, although it is not near as dangerous as it used to be. Today doctors have much more
technology than they did when surgeries first started being done. Most Marfan Syndrome
patients had shorter lifespans due to surgery calamities when the syndrome was first discovered
but today, less Marfan Syndrome patients pass away due to surgery. Other specific surgeries that
do not involve the heart are eye surgeries, breast bone corrections, and scoliosis treatment. Eye
surgeries are usually done when the eye lenses have detached, the surgery simply replaces the
lenses. A breast bone correction surgery is done when the patient is experiencing trouble with
their breathing due to the chest bones sinking in because on the breaking down of connective
tissue, the surgery rearranges the bones back to normal position. A scoliosis treatment surgery is
Bryan 6
done only when a back brace does not fix the curved back bone; the surgery is then done simply
to straighten the bone (“Surgical and other procedures”).
Other than surgery, there are many different medications that Marfan Syndrome patients
can receive. The most prescribed drugs are Blood pressure medicines and Beta Blockers.
Angiotensin II Receptor Blockers or ARBs are blood pressure medicine. They are first-line
treatment for Marfan Syndrome patients with high blood pressure. First-line means that they are
the first blood pressure medicine prescribed to Marfan Syndrome patients. Losartan is also blood
pressure drug; it helps keep the blood pressure down in order to prevent any other problems with
the heart. Beta Blockers are drugs that slow the heart beat and cause it to beat with less force in
order to help the connective tissue in the heart not break apart so easily (“Treatment”). The
reason Beta Blockers are prescribed is because if the heart is not beating with much force it is
less likely for connective tissue in heart to break down worse. Atenolol is a more effective and
fast beta blocker than the original. Atenolol may be prescribed if the patient needs urgent heart
slowing or if their connective tissue breaks down more easily than other patients may
(“Atenolol”). These medications are all in the form of a medium sized pill. Another medication
given to Marfan Syndrome patients is Warfarin. Warfarin is a medication that is known as a
blood-thinner. It is used to prevent strokes, heart attacks, and blood clotting (“Warfarin Uses,
Dosage, Side Effects - Drugs.com”). For Mafan Syndrome patients, blood clotting prevention is
a good idea. Since their connective tissue is weak and broken down, a blood clot is likely to bust
the artery or vein containing the clot.
Patients of Marfan Syndrome need to be careful when picking a career. This is because if
they pick a job that involves a lot of physical activity it may damage them by bringing their heart
rate up repeatedly. Safe careers for Marfan Syndrome patients to go in to would include things
Bryan 7
like health, physical therapy, business, and other jobs that don’t involve much movement. When
picking a career to go in to, the patient should consider how bad their symptoms of Marfan
Syndrome are. If they are really bad then the person should be careful of which field they go in
to. If they are not that horrific then they may be able to do what they choose. In any case the
important thing is considering their doctors suggestions on what would be okay for them to do
based on their health.
Many people with Marfan Syndrome often wonder if they receive any government
benefits for any disabilities they may have due to the syndrome. Although just a diagnosis of the
syndrome will not qualify you for government benefits. For example, if you have an uncontrolled
aneurysm or heart murmur you automatically are eligible for benefits (“Marfan’s Syndrome –
Benefits and Filing | Disability Secrets”). An aneurysm is an enlargement of an artery that causes
serious chest pains. A heart murmur is a sound or vibration that the heart puts off. It causes
strange feeling in the chest and sometimes even pain. Usually these two things are the only
things that make a patient eligible unless the person’s symptoms are severe and would interfere
with the person working. This would mean that the person has symptoms that hold them back.
There are many different foundations for Marfan Syndrome patients. These foundations
do many things for the patients. The Marfan Foundation is a one of many foundations that is very
successful. The Marfan Foundation gives information to patients and family, helps patients find
good doctors, offers support groups, and puts together groups each year to discuss further
research done on the syndrome (“Patients & Families”). This foundation also has a website that
will give all the information that anyone would want to know about the syndrome. They also
have chosen random severe Marfan Sydrome patients and done fund raisers. All the money
donated will be given to the patient and their family (“The Marfan Foundation”). Another
Bryan 8
foundation that focuses more on the research being done on the syndrome is The Marfan’s
Research Foundation. The Marfan’s Research Foundation gives information about the syndrome
and helps people know the research that is being done. This foundation’s charity has raised over
thirty-seven thousand two hundred and ninety-four dollars and thirty-five cents for Marfan
Syndrome research since October of 2014 (“Marfans Research”). All the foundations, including
these two, for Marfan Syndrome are greatly appreciated by patients and their loved ones.
The history of Marfan Syndrome goes back to the late 1800s. Antoine Marfan, full name
Antoine Bernard-Jean Marfan, was the doctor who made the discovery of the syndrome. Antoine
was a French pediatrician. A pediatrician is a type of doctor that specializes in children and
diseases they may have. Gabrelle was one of Antoine’s patients. She had a very tall figure, long
limbs, and flat feet. Antoine noticed these strange features of the five year old. After he found
out that there was something wrong, she was the first person to ever be diagnosed with Marfan
Syndrome, although after the discovery, many people were said to have the syndrome without
knowing that was what was wrong with them (“Antoine Bernard-Jean Marfan”). Gabrelle was
also studied by two other scientists. These two scientists believed that it was the opposite of
Achondroplasia. Achondroplasia is a medical issue that causes dwarfism or short stature due to a
defect of the cartilage in a person’s body. The defect causes most cartilage to not convert to bone
(“Achondroplasia”). The reason the two doctors thought it was the opposite was because
Achondroplasia causes a short stature and Marfan Syndrome (not yet discovered) causes a tall,
long stature of the body. The two scientists called it Hyperchondroplasia, but Antoine did further
research and a medical test to prove that this syndrome was not just the opposite of
Achondroplasia and in the end, the syndrome was named after him for discovering it (“Antoine
Bernard-Jean Marfan”). Little did he know that he would save lives by doing so.
Bryan 9
Marfan Syndrome is a very rare but harsh syndrome. It affects thousands of people’s life
styles, heart, joints, bones, and many other things. It has many signs and effects of some that are
noticeable and some that are not. This syndrome hinders many people’s lives every day and
unfortunately there is not a cure for it yet.
Bryan 10
Works Cited
"Achondroplasia." Healthline. N.p., n.d. Web. 16 Apr. 2015.
"Aging with Marfan Syndrome." Aging with Marfan Syndrome: 5 Common Questions. N.p., n.d.
"Antoine Bernard-Jean Marfan." Whonamedit -. Ole Daniel Enersen, 2015. Web. 18 Mar. 2015.
"Atenolol." PDR Search. N.p., n.d. Web. 07 Apr. 2015.
"Famous People With Marfan Syndrome." Marfan Syndrome. Marfan Syndrome, 2015. Web. 19
Feb. 2015.
"Marfan Syndrome." Treatments and Drugs. N.p., n.d. Web. 26 Feb. 2015.
"Marfans Research." Marfans Research. N.p., n.d. Web. 07 Apr. 2015.
"Marfan's Syndrome - Benefits and Filing | Disability Secrets." Disability and Disability Secrets.
N.p., n.d. Web. 26 Feb. 2015.
"Of Mice & Men Vocalist Quits Under Laboring Health Issues." Noisecreep. Matt Debenedictis,
09 Apr. 2010. Web. 04 Feb. 2015.
"Patients & Families." Patients & Families. N.p., n.d. Web. 07 Apr. 2015.
"Pregnancy." Pregnancy. N.p., 2014. Web. 10 Feb. 2015.
"Surgical and Other Procedures." Marfan Syndrome. N.p., n.d. Web. 26 Feb. 2015.
"The Marfan Foundation." Know the Signs. Fight for Victory. N.p., 2014. Web. 10 Feb. 2015.
Bryan 11
"Treatment." Treatment. N.p., n.d. Web. 07 Apr. 2015.
"Warfarin Uses, Dosage, Side Effects - Drugs.com." Warfarin Uses, Dosage, Side Effects
Drugs.com. N.p., n.d. Web. 07 Apr. 2015.
"What Are the Signs?" What Are the Signs? N.p., 2014. Web. 10 Feb. 2015.
"What Is Marfan Syndrome?" What Is Marfan Syndrome? Marfan Foundation, 2014. Web. 04
"Why Can't People with Marfan Syndrome Play Contact Sports?" Why Can't People with Marfan
dSyndrome Play Contact Sports? N.p., n.d. Web. 07 Apr. 2015.
“How is the Body Affected?” How is the Body Affected? N.p., 2014. Web. 09 Feb. 2015.
“Medical Dictionary.” TheFreeDictionary.com. n.p, n.d. Web. 27 Apr. 2015.
“What are the Effects?” What are the Effects? N.P., 2014. Web. 4 Apr. 2015.