Marfan

Could this disorder be Are there any support

prevented? groups?

Disease
-Certain activities can sometimes There are support groups such as The
prevent related problems Marfan Foundation, Alliance of Genetic
-Yearly eye, breastbone, and spine Support Groups, Canadian Marfan
exam Association, NIH/National Institute of
-Dont smoke Arthritis and Musculoskeletal and Skin
-Get regular check-up and Diseases, and much more.
echocardiogram
-Eat balanced diet for healthy
life-style
Can this individual have
children in the future?
Will those children be
affected?
The affected individual is able to
have kids, but his/her kids have
50% of being affected.
Whats the current
status of research on
this disorder?
Researchers have that losartan, a
Name: Tammy Tran
common blood pressure medicine, Period: 5
can slow down the marfan disease. Date: March 13, 2015
Scientist are also looking at this
disease from many perspective.
 Common Names
-Marfans Syndrome
What causes the
disorder?
Marfan Syndrome is caused by a
defect in the gene that determines
the structure of fibrillin-1, a
protein that is an important part
in the connective tissue.
What gene or
chromosomes is
affected by this
disorder?
A defect is found on
chromosome 15 that causes a
problem in the production of
fibrillin.
*Marfan syndrome Hand Test
Are there any prenatal test
for this disorder?
horionic Villus Sampling - involves
C need?
taking small sample cells from the
placenta (10-12 weeks)
Amniocentesis - involves taking small
sample of amniotic fluid that
surrounds the unborn baby in the womb
(16-18 weeks)
What are the symptoms?
People with Marfan syndrome are tall,
thin, and loose jointed. They have
problems with the heart, blood vessels,
eyes, lungs, and skin. When people with
Marfan disease grow older, they may
have painful abdomen and weak legs.
How is it inherited?
Marfan Syndrome is autosomal
dominant (sex-linked)
*Inheritance Possibility
What kind of assistance
does the affected child
Although a person diagnosed
with Marfan syndrome may
not need physical assistance,
both their family and them
may have financial, social, and
emotional stress.
Are
there any
treatments or cures?
As of right now, there is no cures
for this disease, but there are
treatments such as medicines or
surgery.
*Isaiah Austin, American basketball
player, who was diagnosed with
Marfan Syndrome