Transcript Marfan`s Syndrome PPT

MARFAN’S SYNDROME
By: Anthony G., Breanna C., and Stefania P.
MARFAN’S SYNDROME WHO?
Marfan’s Syndrome is named after Antoine Marfan, the
French doctor who discovered it in 1896. In 1896 Marfan,
presented the case of a 5-year-old girl, Gabrielle. Marfan pointed
out Gabrielle's extremely long limbs. Her mother had noticed this
already at birth. The fingers and toes were exceptionally long and
slender, making a spider-like impression. So then Marfan’s
Syndrome was founded.
WHAT IS MARFAN’S SYNDROME,
AND HOW IS IT INHERITED?
Marfans Syndrome is a disorder that
affects the connective tissue, so its not as
strong as it would be. This results in long
limbs. This is passed down by a non sexlinked (autosomal) dominant pattern, which
means one copy of the altered gene in each
cell is plentiful to cause the disorder. At
least 25 percent of Marfan syndrome cases
result from a new alteration in a gene.
This is a pedigree chart that shows how
Marfan Syndrome got passed down.
MARFAN SYNDROME SYMPTOMS
Marfan syndrome affects people in different ways. Some people have only mild
symptoms, and others have severe problems. Most of the time, the symptoms
get worse as the person gets older. People with Marfan syndrome are often
very tall, thin, and loose jointed. They may have:
• Bones (arms, legs, fingers, and toes) that are longer than normal, crowded
teeth because the roof of the mouth is arched, a breastbone that sticks out or
caves in, a curved backbone
• Most people with Marfan syndrome have problems with the heart and blood
vessels, such as: a weak part of the aorta (the large artery that carries blood
from the heart to the rest of the body).
• Some people with Marfan syndrome have problems with the eyes, such as:
Nearsightedness, Glaucoma (high pressure within the eye) at a young age,
Cataracts (the eye’s lens becomes cloudy)
• Many people with Marfan syndrome have: Stretch marks on the skin. These
are not a health problem. A hernia (part of an internal organ that pushes
through an opening in the organ’s wall).
EFFECTS OF MARFAN’S SYNDROME
A genetic disorder can cause social, emotional, and
financial stress. It often requires changes in outlook and lifestyle.
People with Marfan syndrome may feel many strong emotions,
including anger and fear. They may also be concerned about
whether their children will have Marfan syndrome. It helps people
with Marfan syndrome to have a proper medical care and a strong
social support.
HOW DO DOCTORS DIAGNOSE MARFAN’S
SYNDROME?
A doctor determines whether or not you have Marfan’s Syndrome based on
your medical/family histories, and physical exam.
Medical and Family Histories: Your doctor will ask about your medical history and
your family's medical history. For example, your doctor may ask whether:
• You've had heart disease, eye problems, or problems with your spine. These
complications are common in people who have Marfan syndrome.
• You have shortness of breath, palpitations, or chest pain. These are common
symptoms of heart or lung problems linked to Marfan syndrome.
• Any of your family members have Marfan syndrome, have died from heart
problems, or have died suddenly.
Physical Exam: During the physical exam, your doctor will look for Marfan
syndrome traits. For example, he or she may check the curve of your spine and the
shape of your feet. Your doctor also will listen to your heart and lungs with a
stethoscope.
PROGNOSIS OF MARFAN SYNDROME
If unrecognized or left untreated, the average life
expectancy for a patient with Marfan syndrome is 45 years.
However, if properly managed, patients with Marfan syndrome can
have a normal life expectancy. If you have Marfan syndrome, you'll
need regular checkups with the doctor:
• Regular visits with a heart specialist to check for problems with
your heart valves and aorta. (The aorta is the main blood vessel
that supplies oxygen-rich blood to the body.)
• Annual checkups with a bone specialist to look for changes in
your spine and breastbone.
• Regular eye exams with a eye specialist to find and treat eye
problems early.
TREATMENT
While Marfan syndrome is a condition that cannot be
cured, you can live a long, full life with proper treatment and
management. In general, you can expect some things you need to
think about every day, such as medications and limitations on
physical activity. Then, there are routine doctor appointments,
which may be yearly or more frequent, as well as other evaluations
to make sure that your symptoms are not worsening. Sometimes,
when symptoms progress, your doctor will recommend surgery. In
some cases, you will have time to plan for an operation; in other
cases, immediate surgery may be needed.
CURRENT RESEARCH
Currently the Marfan Foundation is doing all they can to
find out a way to help people with Marfan Syndrome. As a result of
a long-time commitment to advancing this research, the Marfan
Foundation have turned the tide for Marfan research. They work
with world-class scientists who are equally dedicated to. In
addition, the research that they have done has identified new
disorders related to Marfan syndrome, which not only allows for
better, more specific diagnoses, but also helps to pinpoint more
effective treatments for Marfan syndrome and the related
disorders.
Mutations in the FBN1 or
fibrillin gene on
chromosome 15 cause a
genetic disorder called
Marfan syndrome. The
misshapen protein from the
mutated gene weakens the
connective tissues in the
body.
MARFAN SYNDROME SUMMARY
About a month before Isaiah Austin was expected to become a
first round pick in the NBA draft,he found himself in the office of a
heart specialist, getting a second opinion about a problem that came
up during a routine physical by league doctors. Dr. Robert Bonow sees
a handful of these referrals every year, almost always false alarms.
Bonow wasn’t so sure this time. Austin indeed had many
characteristics of Marfan syndrome, a condition that is potentially
fatal and certainly career-ending. The definitive answer would come
from a blood test. Results wouldn’t arrive until shortly before the
draft. Despite all of that hanging in the balance, Austin he never even
Googled the words Marfan syndrome. Years before, an injury stole the
vision in his right eye. Austin powered on, fueled by his faith,
becoming an All-American in high school and a star at Baylor
University. So whatever the future held, he’d be ready for it.
WORK CITED
• Brown, Nancy. "His NBA Dream Lost, Isaiah Austin Winning in New
Ways." The Huffington Post. TheHuffingtonPost.com, n.d. Web. 06 Apr.
2016.
• "How Is the Body Affected?" How Is the Body Affected? N.p., n.d. Web. 06
Apr. 2016.
• "Marfan Syndrome." Fast Facts About. N.p., n.d. Web. 06 Apr. 2016.
• "Marfan Syndrome." Fast Facts About. N.p., n.d. Web. 06 Apr. 2016.
• "Marfan Syndrome: Get Facts on This Genetic Tissue Disorder."
MedicineNet. N.p., n.d. Web. 07 Apr. 2016.
• "Marfan Syndrome: Get Facts on This Genetic Tissue Disorder."
MedicineNet. N.p., n.d. Web. 31 Mar. 2016.
• "What Is Marfan Syndrome?" - NHLBI, NIH. N.p., n.d. Web. 06 Apr. 2016.