Transcript Marfan Syndrome by Melanie Dragomire

Marfan
Syndrome
Melanie
Dragomire
Dr. Williams
NS215
Marfan Syndrome
• This is my younger
brother, Jared, when he
was 11-years-old he was
diagnosed with Marfan
Syndrome.
• Marfan Syndrome is the
most common connective
tissue disorder. And it
can affect both males
and females of all ethnic
groups. Only about 1 in
5,000 people are born
with this disorder.
•
What is Marfan
Syndrome
?
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.
• But in the bodies of people with
Marfan Syndrome the connective
tissue is defective and does not act
as it should.
What Marfan Syndrome
affects
• A person with Marfan
Syndrome may exhibit long
limbs and spider-like
fingers, chest
abnormalities and curvature
of the spine.
• The most significant of the
defects in the syndrome
are cardiovascular
abnormalities, which may
include enlargement
(dilatation) of the base of
the aorta.
Cardiovascular Abnormalities
• Valves in the heart may not close properly and may
let blood leak backward. The aorta, the large
artery that carries blood away from the heart out
to the body, may stretch and enlarge, and it can
burst. The aorta also can develop a tear in its
inner wall. This tear can expand and block blood
flow through the aorta. This is called aortic
dissection.
What Causes Marfan Syndrome?
• Marfan syndrome is caused by mutations in FBN1
gene located on chromosome 15 and this gene is in
control of the structure of a protein called fibrillin.
Fibrillin is an important part of connective tissue.
• People without the mutated gene that causes
Marfan Syndrome have large amounts of fibrillin in
their bones, heart and ligaments, but people with
Marfan’s lack that fibrillin which causes their
ligaments to abnormally stretch.
An Inherited Disorder
• Marfan Syndrome is an
autosomal dominant
condition that is passed
from parent to child.
That means it only takes
a defective gene from
ONE parent to pass the
disease on.
• In about one-forth of
the people with Marfan
Syndrome the mutation
occurs for the first time
in the egg or sperm of
the parent who doesn’t
have the disorder and
then it is passed to the
child.
How is it diagnosed?
• 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 can
be very complicated because the
symptoms and signs of the disorder
vary widely.
• A Ghent criteria is used by doctors
to help make the diagnoses. Tests
need to be ran by a number of
doctors, including a doctor who
specializes in bones, eyes and heart,
as well as a medical geneticist.
Tests & Info Used in Diagnosis
• Information about any family members who may have
the disorder or who had an early, unexplained heartrelated 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 cardiologist used to examine the heart
valves and aorta.
Care and Treatment
• There is no cure for
the Marfan Syndrome.
However, a range of
treatment options can
minimize and sometimes
prevent complications.
• Eyes- Early, regular
eye examinations are
key to catching and
correcting any vision
problems associated
• Skeletal- Annual
with the Marfan
evaluations are
important to detect any syndrome.
changes in the spine or
breastbone. This is
particularly important
in times of rapid
growth, such as
adolescence.
Care and Treatment cont’
• Heart and blood vessels- Regular
checkups and echocardiograms help the
doctor evaluate the size of the aorta
and the way the heart is working. The
earlier a potential problem is identified
and treated, the lower the risk of lifethreatening complications.
• Some heart valve problems can be
managed with drugs such as betablockers, which help decrease stress on
the aorta. In other cases, surgery to
replace a valve or repair the aorta may
be necessary.
National Marfan Foundation
• This organization helps people who have
Marfan Syndrome and related connective
tissue disorders. It provides information and
materials about the disorder and how to seek
appropriate medical care. It supports
research and promotes public awareness of
Marfan Syndrome. The Foundation can also
provide the names of doctors who diagnose
and treat Marfan Syndrome.
Living with Marfan Syndrome
• My brother Jared is now
21 years-old and has
been living with Marfan
syndrome for 10 years
and he has to live with
it for the rest of his
life, but medicine has
come a long way making
the process easier for
him and my family. And
even though he is a good
foot taller than me
standing at 6’7”, he will
always been my baby
brother.
Bibliography
• http://www.marfan.org/nmf/.htm
• http://www.niams.nih.gov/hi/topics/marfan/marfan.
htm
• http://www.mayoclinic.com/health/marfansynrdome
• http://www.ygyh.org/marfan/diagnosis.htm
• http://ww2.heartandstroke.ca/Page.asp?PageID=1
975&ArticleID=5134&Src=heart&From=SubCateg
ory
• http://www.nhlbi.nih.gov/health/dci/Diseases/mar/
mar_all.html