MARFAN SYNDROME

DEFINITION: Marfan syndrome is an inherited disorder that affects connective tissue- the fibers that
support and anchor your organs and other structures in your body.

Connective tissue, as the name implies, is a term given to several different tissues of the body that serve
to connect, support and help bind other tissues in the body. Connective tissue can further be broken
down into three categories: loose connective tissue, dense connective tissue, and specialized connective
tissue. Loose connective tissue works to hold organs in place and is made up of extracellular matrix and
collagenous, elastic and reticular fibers. Dense connective tissue is what makes up tendons and
ligaments and consist of a higher density of collagen fibers. Examples of specialized connective tissues
are adipose tissue, cartilage, bone, blood, and lymph.

Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

People with Marfan syndrome are usually tall and thin with disproportionately long arms, legs, fingers
and toes. The damage caused by Marfan syndrome can be mild or severe. If your heart or blood vessels
are affected, the condition can become life-threatening.

Treatment usually includes medications to keep your blood pressure low to reduce the strain on
weakened blood vessels. Depending on the severity of your symptoms and the part of your body that's
affected, surgery may be necessary.

SYMPTOMS:

The signs and symptoms of Marfan syndrome vary greatly, even among members of the same family.

Some people experience only mild effects, but others develop life-threatening complications. In most
cases, the disease tends to worsen with age.

When to see a doctor

If you think that you or your child may have Marfan syndrome, talk to your doctor or pediatrician. If your
doctor suspects a problem, you'll likely be referred to a specialist for further evaluation.

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
percent of the people who have Marfan syndrome, the abnormal gene doesn't come from either parent.
In these cases, a new mutation develops spontaneously.

RISK FACTORS

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups.
Because it's a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the
disorder.

COMPLICATIONS

Because Marfan syndrome can affect almost any part of your body, it may cause a wide variety of
complications.

Cardiovascular 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 in 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 also are more likely to have problems with their heart valves, which
may be malformed or overly elastic. 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:

Lens dislocation.

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. 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.

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.

Skeletal complications

Marfan syndrome increases the risk of abnormal curves in the spine, such as scoliosis. It also can
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.

Complications of pregnancy

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During
pregnancy, a woman's heart is pumping more blood than usual, and this can put extra stress on a
woman's aorta — which increases the risk of a deadly dissection or rupture.

PREPARING FOR YOUR APPOINTMENT

Recommended

Marfan syndrome

Marfan syndrome can affect many different parts of your body, so you may need to see a variety of
medical specialists, such as: A cardiologist, a doctor who specializes in heart and blood vessel disorders

Syed Khawar Abbas Asad

484 views • 15 slides

An ophthalmologist, a doctor who specializes in eye disorders An orthopedist, a doctor who specializes
in structural problems of the skeleton

A geneticist, a doctor who specializes in genetic disorders To make the best use of appointment time,
plan ahead and have important information available, including:
Detailed descriptions of all your symptoms Details of your past medical history, including any previous
surgeries

A list of all your medications and supplements What to expect from your doctor

All your doctors will want to hear about your specific symptoms, and whether anyone in your family has
had Marfan syndrome or experienced an early, unexplained heart-related disability or death.

TESTS AND DIAGNOSIS

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders
have similar signs and symptoms. Even among members of the same family, the signs and symptoms of
Marfan syndrome vary widely-both in their features and in their severity.

Certain combinations of symptoms and family history must be present to confirm a diagnosis of Marfan
syndrome. In some cases, a person may have some features of Marfan syndrome, but not enough of
them to be diagnosed with the disorder.