Marfan Syndrome
By: ……..
Cause
 Caused by a mutation in the FBN1 gene
that determines the structure of fibrillin
 Fibrillin is a protein that is an important
part of connective tissue and elastic fibers
which affect multiple parts of the body
such as bones, joints, eyes, blood vessels,
and heart
Symptoms
 Long and skinny arms
ands legs leading to the
arm span being longer
than height, nearsighted,
dislocation of one or
both lenses of the eye,
super arched mouth
which leads to very
crowded front teeth,
intruding chest bone,
weak hearts, pain in the
abdomen…
More Symptoms
 Weak legs, increased
risk of hernia, flat feet,
scoliosis, long and
skinny fingers and toes,
stretch marks, swollen
and stretched air sacks
in the lungs which
increases the risk of
lung collapse, defective
heart valve between
the left chambers of the
heart, and they may
have loose joints
Who is Likely to have this
disease?
 Marfan Syndrome is an inherited disease
and can affect men and woman of any
race or origin
 There are some very serious cases but
most are much more mild
 1 in 10 affected cases are serious
 Our president Abe Lincoln was suspected
of having this disease
Frequency
 About 200,000 thousand people in the US
have Marfan Syndrome
 Each child of a person who has Marfan
syndrome has a 50% chance of inheriting the
disease
 Two unaffected parents have only a 1 in 10,000
chance of having a child with Marfan syndrome
 About 25% of all Marfan cases are due to a
spontaneous mutation at the time of
conception
When is it detected?
 Marfan Syndrome can
be detected during
childhood but not
though a simple blood
test
 Mutliple doctors are
needed to look for
symptoms, at least
three must be found in
order for the person to
be given treatment for
Marfan Syndrome
Prevention
 Prevention of
Marfan Syndrome
is not possible
because it is an
inherited genetic
disorder that
affects the
connective tissue
Treatment
 Beta blockers have now been used to control
some of the heart symptoms of Marfan
Syndrome
 Propranolol is also being used to help prevent
aortic aneurysms
 Regular visits to the doctor are a must to make
sure
 There is no cure for Marfan Syndrome but
there are some treatments to help improve the
quality of life
Life Expectancy
 For woman, life expectancy has risen
from 49 to 74 years
 For men, life expectancy has risen from
41 to 70 years in the last 32 years
 This life expectancy of Marfan patients is
now about that of and average person,
this has grown because there is currently
better treatment for Marfan Syndrome
Current Outlook
 People with Marfan Syndrome can now
basically live a normal life because of
early diagnosis and treatment
 Early identification of this disease allows
doctors to prevent some problems, delay
them, and treat them properly
Bibliography
 http://www.ctds.info/fibrillin.html#environmental
2
 http://www.marchofdimes.com/professionals/68
1_1216.asp
 www.hughston.com/hha/a_12_2_4.htm
 http://www.umd.necker.fr/Site%20Marfan/01AH
OME%20PAGE.html
 http://www.marfan.org/nmf/GetContentRequest
Handler.do?menu_item_id=4#