ABOUT THE

MARFAN SYNDROME
 OVERVIEW
Marfan syndrome is an inherited disorder that
affects connective tissue — the fibers that support
and anchor your organs and other structures in
your body. Marfan syndrome most commonly affects
the heart, eyes, blood vessels and skeleton.
OVERVIEW
People with Marfan syndrome are usually tall
and thin with unusually long arms, legs, fingers
and toes. The damage caused by Marfan
syndrome can be mild or severe. If your aorta —
the large blood vessel that carries blood from
your heart to the rest of your body — is
affected, the condition can become life-
threatening.
 OVERVIEW

Treatment usually includes

medications to keep your blood
pressure low to reduce the strain on
your aorta. Regular monitoring to
check for damage progression is
vital. Many people with Marfan
syndrome eventually require
preventive surgery to repair the
aorta.
 02
SYMPTOMS
The signs and symptoms of Marfan
syndrome can vary greatly, even
among members of the same family,
because the disorder can affect so
many different areas of the body.
Some people experience only mild
effects, but others develop life-
threatening complications
Marfan syndrome features may
include:
 PATIENT CLASSIFICATION
HEART TALL AND
MURMURS SLENDER BUILD

DISPROPORTIONATELY A BREASTBONE THAT

LONG ARMS,LEGS AND PROTRUDES OUTWARD OR
FINGERS DIPS INWARD

EXTREME FLAT FEET

NEARSIGHTEDNESS
A HIGH,ARCHED
AN ABNORMALLY PALATE AND
CURVED SPINE CROWDED TEETH
7
03
CAUSES
 Marfan syndrome is caused by a defect in
the gene that enables your body to
produce a protein that helps give
connective tissue its elasticity and
strength.
Most people with Marfan syndrome inherit
the abnormal gene from a parent who has
the disorder. Each child of an affected
parent has a 50-50 chance of inheriting
the defective gene. In about 25% of the
people who have Marfan syndrome, the
abnormal gene comes from neither parent.
In these cases, a new mutation develops
spontaneously
 CARDIOVASCULAR-
04 COMPLICATIONS

The most dangerous complications of Marfan

syndrome involve the heart and blood vessels.
Faulty connective tissue can weaken the aorta —
the large artery that arises from the heart and
supplies blood to the body.
AORTIC ANEURYSM

The pressure of blood leaving

your heart can cause the wall
of your aorta to bulge out, like
a weak spot in a tire. In people
who have Marfan syndrome,
this is most likely to happen at
the aortic root — where the
artery leaves your heart.
AORTIC DISSECTION

The wall of the aorta is made

up of layers. Dissection
occurs when a small tear in
the innermost layer of the
aorta's wall allows blood to
squeeze between the inner
and outer layers of the wall.
This can cause severe pain in
the chest or back. An aortic
dissection weakens the
vessel's structure and can
result in a rupture, which may
be fatal.
 VALVE MALFORMATIONS

People who have Marfan syndrome can

have weak tissue in their heart valves. This
can produce stretching of the valve tissue
and abnormal valve function. When heart
valves don't work properly, your heart
often has to work harder to compensate.
This can eventually lead to heart failure
EYE COMPLICATIONS
Eye complications may include: 05
 LENS DISLOCATIONS
The focusing lens within your eye can move
out of place if its supporting structures
weaken. The medical term for this problem is
ectopia lentis, and it occurs in more than half
the people who have Marfan syndrome.

RETINAL PROBLEMS
Marfan syndrome also increases the
risk of a detachment or tear in the
retina, the light-sensitive tissue that
lines the back wall of your eye.

15
 EARLY-ONSET GLAUCOMA OR
CATARACTS
People who have Marfan syndrome tend to develop
these eye problems at a younger age. Glaucoma causes
the pressure within the eye to increase, which can
damage the optic nerve. Cataracts are cloudy areas in
the eye's normally clear lens.
 06
SKELETAL
COMPLICATIONS
SKELETAL
COMPLICATIONS
Marfan syndrome increases
the risk of abnormal curves
in the spine, such as
scoliosis. It can also
interfere with the normal
development of the ribs,
which can cause the
breastbone to either
protrude or appear sunken
into the chest. Foot pain
and low back pain are
common with Marfan
syndrome.
 THANKS!

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