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Marfan syndrome can affect the eyes in many ways. For this reason, people with Marfan syndrome
should see an ophthalmologist (a medical doctor who takes care of the eyes) to find out if they have
any eye problems and learn how to care for their eyes.
Except for dislocated lenses, all of the eye problems in Marfan syndrome also occur in the general
population. As a result, doctors do not always realize these eye problems are related to Marfan
syndrome. It is important to know that even though these problems occur in the general population,
they are much more common in people who have Marfan syndrome.
Some features of the Marfan eye can cause problems with seeing clearly (vision problems). These

Dislocated lenses
About 6 in 10 people with Marfan syndrome have dislocated lenses in one or both eyes. This means
the lens, located at the front of the eye, has slipped out of place because the connective tissue that
holds the lens in place (called zonules) is weak. When this happens, the lens can slip in any
directionup, down, to the side, or back. It can slip a little or completely out of place, and anywhere
in between. With the lens out of place, the eye cant focus properly and vision is blurry.
Symptoms of lens dislocation depend on severity and may include mild to severe nearsightedness,
blurred vision, and fluctuating vision. Lens dislocation can only be confirmed by an ophthalmologist
using a slit-lamp eye examination after fully dilating the pupil.
For most people, dislocated lenses occur before age 20, although lenses can dislocate at any age.
Babies and children can have dislocated lenses. Dislocated lenses are rare in the general
population, so people with dislocated lenses should be tested for Marfan syndrome if there is not
another known cause.

Retinal detachment
Retinal detachment is a separation of the light-sensitive membrane in the back of the eye (the retina)
from its supporting layers. Symptoms that may indicate a retinal detachment include:

Flashing lights
New floaters

A gray curtain moving across your field of vision

These symptoms do not always mean a retinal detachment is present, but you should see your eye
doctor immediately if any of these signs occur.

Head trauma can cause retinal detachment in anyone, and those who are highly myopic (nearsighted) are always at risk for retinal detachment. For people with Marfan syndrome, however, retinal
detachment can happen spontaneously. See your doctor immediately if you see flashing lights, new
floaters or a gray curtain moving across your field of vision.

Severe myopia
Nearsightednesswhen objects in the distance are blurred.

Blurred vision caused by an irregular curve of either the lens or the cornea. The cornea is the layer
of tissue covering the very front of the eye.

When one eye does not develop normal vision during early childhood. Sometimes called lazy eye.

When the eyes point in different directions. Sometimes the eyes turn inward resulting in crossed
eyes, but the eyes can also turn outward or downward.

A disease of the eye caused by increased pressure inside the eye. Untreated glaucoma can cause

Pre-senile cataracts
Clouding of the eye lens before age 60. Cataracts are common in older people who do not have
Marfan syndrome, but people with Marfan syndrome can get cataracts at younger ageseven
before age 40.
There are some other eye features that often occur in people who have Marfan syndrome. These
features do not usually cause vision problems, but they can help doctors decide whether or not a
person has Marfan syndrome. They include:

Flattened curve of the cornea. This feature may make it more difficult to fit

contact lenses.
Larger than normal corneas.
Difficulty in completely dilating (opening) the pupils when the doctor does an

eye exam.
Obvious sunken eyeballs (enophthalmos)


Problems with the heart and blood vessels are common and can be very serious in people with
Marfan syndrome and many related disorders. Thats why an early and accurate diagnosis is vital.
The most common of these problems affects the aorta, the main blood vessel carrying blood from
the heart to the rest of the body. Heart valves can also have problems. Less often, people have
problems in blood vessels other than the aorta.
Even though heart and blood vessel problems affect about 9 out of every 10 people diagnosed with
Marfan syndrome, there is good news. If you get diagnosed, you have a lot of options, including
having surgery, taking medications and changing your physical activities. With treatment, you have a
good chance of avoiding a life-threatening situation.

Types of cardiovascular problems

Aortic enlargement
In a person with Marfan syndrome or some related disorders, the aorta may become enlarged (aortic
dilation) or the walls of the aorta may bulge (aortic aneurysm). These are very serious problems
because a significantly enlarged aorta is at risk for tearing or rupture (aortic dissection). For most
people with Marfan syndrome, the problem starts in the segment of the aorta closest to the heart.
Aortic tear or rupture
A tear or rupture between layers of the aortic wall is called an aortic dissection. When this
happens, people experience severe pain in the center of their chest, stomach, or back. They may
describe the pain as sharp, tearing or ripping. The location of the pain may change. Sometimes,
the pain is less severe, but people still have the feeling that something is very wrong. If a dissection
is suspected, a person needs immediate medical attention and should go to a hospital emergency
department right away.
There are two types of aortic dissection:

Dissection of the ascending aorta. This is the most common dissection in Marfan
syndrome and its life-threatening. When it happens, a person needs immediate surgery.
Dissection of the descending aorta: This can often be managed with medication
and monitoring. A person only needs surgery if they have serious complications, such as
loss of blood flow to vital organs or an aorta that is seriously enlarged.
Mitral valve prolapse
Mitral valve prolapsed is a condition in which the flaps of one of the hearts valves (the mitral
valve, which regulates blood flow on the left side of the heart) are floppy and dont close tightly.
Symptoms can include irregular or rapid heartbeats and shortness of breath. Some people also have

leaking of the mitral valve. A small amount of leaking is usually not a problem, but a person may
need surgery if the mitral valve leaks a lot.
Aortic regurgitation
Aortic regurgitation is when the aortic valve does not fully close and blood leaks back into the heart.
This often happens when the aorta is enlarged and the valves cannot fully come together. The only
symptoms a person may have are forceful heartbeats and shortness of breath during light activity.


Marfan syndrome often causes problems in the bones and joints, and these are often the features
that first lead a person to suspect Marfan syndrome. These features (called skeletal features)
happen when bones grow extra long or ligaments (connective tissue that holds joints together)
become stretchy like loose rubber bands.
Many people with Marfan syndrome have more than one skeletal feature. Very few people have
them all. Only about one-third of people with Marfan syndrome have skeletal features so severe that
they need to see an orthopedic doctor. Here are some problems that can happen.

When bones grow extra long:

Your chest may sink in (pectus excavatum) or stick out (pectus carinatum or
pigeon breast). This happens when your ribs grow too long.
Your arms, legs, fingers, and toes can be very long and thin. Your doctor may
check whether they are extra long by using any of these measures:

Arm span greater than height (when you stretch out your arms to the side

and the measurement from finger tip to finger tip is more than your height)
Reduced upper to lower segment ratio (when the length of your torso

[shoulders to legs] is much shorter than the length of your legs)

Positive wrist sign (when the thumb and little finger overlap when one

hand grasps the other wrist)

Your teeth may be crooked and crowded because the roof of your mouth (palate)
is high and arched.
Your hip sockets (where the thigh bone fits into the hip) are extra deep. Doctors
often find this problem by doing a hip x-ray.

When ligaments are stretchy and loose:

You may have a very low foot arch (pes planus or flat feet) or very high foot arch.
Your spine may curve to the side (scoliosis) or forward (kyphosis).

Bones in your spine (vertebrae) may slip over each other (spondylolisthesis). This

most often happens in the lower spine.

You may have extra movement (hypermobility) in your hand and wrist. This can
make it hard to hold pencils or pens.

Your knees, hips, shoulders, or other joints may slip out of place (dislocate).
You may have claw or hammer toes (abnormal bending of the toes).

You may get arthritis as early as your 20s or 30s. Deep hip sockets or unstable
joints can cause this.

Other skeletal features may include:

Reduced bone density (which can make your bones weak). Doctors are studying
whether people with Marfan syndrome are at greater risk for getting broken bones or if

their broken bones heal more slowly.

Swelling or bulging of the sac (dura) around your spinal cord (dural ectasia). This
is common in people with Marfan syndrome. Doctors test for dural ectasia with MRI or
CT scans of the lower back. For more information on dural ectasia, go to Nervous

The nervous system the brain and spinal column are surrounded by fluid contained in a
membrane called the dura, which is primarily made up of connective tissue. The enlargement of this
membrane (and sometimes the presence of cysts) is referred to as dural ectasia.
Dural ectasia is present in more than 60 percent of people who have Marfan syndrome. The
presence of dural ectasia does not always cause problems, although in some people it causes back,
abdominal, and leg pain and headaches.
Dural ectasia is best identified through MRI imaging, particularly of the lower spine with a person
standing upright. A mylogram, CT scan, or plain spinal films might also reveal the presence of dural
ectasia. Here are some frequently asked questions about dural ectasia.

Does dural ectasia occur only in the lower spine?

No, dural ectasia can also occur in the neck or in the upper torso, but this is very rare. In 99 percent
of people with dural ectasia, it occurs in the lowest part of the spine because this is where the fluid
pressure is greatest when standing.

Can trauma such as an automobile accident cause dural

ectasia in people with Marfan syndrome?
Yes, dural ectasia can present itself following trauma, but it doesnt commonly occur this way.

What are the symptoms of dural ectasia and how are they
The symptoms of dural ectasia vary. They include aching in the very low back, almost in the tailbone,
as well as abdominal pain, headaches, and leg pain. Pain and numbness in the perineum (the area
between the legs in front of the anus) can also occur.

When should symptoms of dural ectasia be evaluated?

The need for an evaluation depends on the degree of symptoms and disability. If the symptoms are
tolerated, there is no urgency to be evaluated.

Are there other spinal problems that are associated with

dural ectasia?
Dural ectasia does thin the spinal vertebrae, which can have implications for a person having
surgery on the spine for any reason.

Is it safe to have a spinal MRI if titanium rods are in place

due to scoliosis?
A person can have an MRI with any kind of spinal rod. There may be a "halo" or invisible area on the
MRI in the immediate area around the rod. Titanium creates the smallest halo.

Many people with Marfan syndrome experience pulmonary complications, or problems with their
lungs. If you suspect that you have lung problems, you should see a pulmonologist (lung doctor).
The risk for lung problems with Marfan syndrome and some related disorders is so high that
everyone with these disorders should avoid or quit all forms of smoking.
These are some of the most common problems involving the lungs in people with Marfan syndrome.

Spontaneous Pneumothorax
Pneumothorax, which is also known as collapsed lung, involves lung collapse or lung detachment
from the chest wall. It can happen spontaneously, meaning there is a lung collapse without any
cause. When a lung collapse occurs, air escapes from the lungs and fills up the space outside of the
lung, inside the chest. In the Marfan lung, pneumothorax can be recurrent, present in both lungs,
and associated with emphysema. A person with pneumothorax may experience shortness of breath,

dry cough, an acute onset of pleuritic chest pain (chest pain that gets worse when you take a deep
breath), or chest pain that gets worse when coughing.

Restrictive Lung Disease

About 70% of people with Marfan syndrome also have restrictive lung disease. Restrictive lung
disease does not allow the chest to expand fully. When the lung cannot expand fully, there is a
decreased ability to expand the lung (breathe in), which makes it difficult for the body to take in the
amount of oxygen that the body needs. In people with Marfan syndrome, restrictive lung disease can
be a result of muscle weakness or a result of structural issues such as scoliosis, kyphosis, or
severely indented chest bone. Restrictive lung disease makes breathing more difficult, and may
cause coughing, wheezing, chest pain, or shortness of breath during mild activity.

Emphysema is a type of chronic obstructive pulmonary disease (COPD) that involves destruction of
the lungs over time, loss of alveolar walls, enlargement of the air spaces, obstruction and
inflammation of the lungs, and damage to the air sacs (alveoli) in the lungs that make it hard for the
body to get the oxygen it needs. Five to 10 percent of people with Marfan syndrome also have

Asthma is a chronic (long-term) lung disease that inflames and narrows the bodys airways. A correct
diagnosis of asthma is important for a person with Marfan syndrome because many of the drugs that
are used to treat asthma (beta-agonists) can counteract the effects of the drugs such as betablockers, which are used to control and slow aortic growth in people with Marfan syndrome. If
asthma is suspected, it is important to see a respiratory specialist who can coordinate treatment with
other care specialists.

Sleep Apnea
Some people with Marfan syndrome have sleep disordered breathing (sleep apnea), which can have
a number of causes. One seems to be looseness (laxity) of the connective tissue of the airways,
which then further relax during sleep and partially obstruct airflow. Often people with sleep apnea
are overweight, but thin people with Marfan syndrome are also at risk.
Any person who snores excessively, sleeps fitfully, seems to have pauses in breathing or gasps for
air while sleeping, has a headache on awakening in the morning, or regularly falls asleep during the
day should be evaluated by doctor.

Many people with Marfan syndrome have narrow jaws and a high-arched palate, which can create
dental (tooth) and orthodontic (alignment) problems.
There is limited research regarding specific management of the orthodontic problems commonly
seen in people with Marfan syndrome, but seeking orthodontic care is an important part of Marfan
syndrome management, particularly in children.
People with mitral valve prolapse and artificial heart valves are at risk for endocarditis (infection of
the heart and heart valves) when they have dental work, and should follow the recommendations
regarding endocarditis prophylaxis.

Stretch marks on the skin (striae atrophicae) may occur in anyone, particularly as a result of rapid
growth during adolescence, pregnancy or marked weight gain or loss. People with Marfan syndrome
are prone to develop stretch marks, often at an early age and without weight change. The marks
tend to appear in body parts subject to stress, such as the shoulders, hips, and lower back.
Although some people dont like the way the stretch marks look, they do not pose any health risk
and do not require treatment.