Marfan Syndrome

Marfan syndrome is a condition that affects your connective tissue. Connective tissue holds your body together and provides support to many structures throughout your body.

Causes #

• When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.

• In most cases, Marfan syndrome is inherited. The pattern is called autosomal dominant, meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome.

• People who have Marfan syndrome have a 50% chance of passing along the disorder to each of their children.

• In 25% of cases, a new gene defect occurs due to an unknown cause.

• Marfan syndrome is also referred to as a variable expression genetic disorder because not everyone with Marfan syndrome has the same symptoms and the symptoms may be worse in some people than others.

• Marfan syndrome is present at birth. However, you may not be diagnosed until you’re a teen or young adult.

Symptoms #

Physical appearance #

Physical features include:

• A long, narrow face.

• Tall and thin body build.

• Arms, legs, fingers and toes that may seem too long for the rest of your body.

• Curved spine. Scoliosis affects 60% of people with Marfan syndrome.

• Breastbone (sternum) that may either stick out or be indented.

• Joints that are weak and easily become dislocated.

• Flat feet.

Dental issues #

Dental problems include:

• Crowded teeth.

• Narrow, higher than normal arched palate (roof of the mouth).

Eye problems #

More than half of all people with Marfan syndrome have eye problems. These include:

• Nearsightedness (blurring of objects far away).

• Lens subluxation (the lens of the eye moves away from its typical position).

• Cataracts.

• A difference in the shape of the eye.

• Retinal detachment.

• Glaucoma.

Heart and blood vessel problems #

About 90% of people with Marfan syndrome develop changes in their heart and blood vessels. Changes that can develop include:

• Aortic aneurysm - The walls of the aorta, the major artery that carries blood from the heart to the rest of your body, become weak, bulge out and could rupture (burst). This happens most commonly at the aortic root (the point where the aortic artery leaves the heart).
• Aortic dissection - This is a tear in the inner layer of the three wall layers of the aorta. The tear allows blood to enter the middle layer, which extends the tear and leads to a further separation and possibly wall rupture. This can be fatal.

Heart valve problems #

• Marfan syndrome can cause valve tissue to become weak and stretch. This leads to valves that don’t close tightly, causing leaks and backflow of blood. The heart often has to work harder when valves aren’t working properly. The mitral valve is commonly affected.

• Enlarged heart. The heart muscle may enlarge and weaken over time, causing cardiomyopathy, even if the heart valves are not leaking. The condition may progress to heart failure.

• Abnormal heart rhythm. Arrhythmia can occur in some people with Marfan syndrome. It’s often related to mitral valve prolapse.

• Brain aneurysms. People with Marfan may have a history of intracranial (inside the skull) bleeding from a ruptured brain aneurysm.

Lung changes #

The changes in lung tissue that occur with Marfan syndrome increase the risk for:

• Asthma.

• Emphysema.

• Chronic obstructive pulmonary disease (COPD).

• Bronchitis.

• Pneumonia.

• Collapsed lung (pneumothorax).

Skin changes #

Skin can become less stretchy, causing stretch marks to occur, even without changes in weight.

Diagnosis #

Tests to evaluate changes in the heart, blood vessels and heart rhythm problems may include:

• Chest X-ray to look at your heart’s border.

• Electrocardiogram (ECG) to check heart rate and rhythm.

• Echocardiogram to check for heart valve problems, examine your heart for ventricular dilation or thickening, and examine your aorta for enlargement, dissections (tears) or aneurysms.

If your healthcare provider can’t see sections of the aorta through an echocardiogram, or they think a dissection may have already happened, you may need more testing.

These include:

• Transesophageal echo (TEE).

• Magnetic resonance imaging (MRI).

• Computed tomography (CT) scan.

Treatment #

Medications #

Medications are not used to treat Marfan syndrome, but they may be used to prevent or control complications. Medications may include:

• Beta-blockers: Beta-blockers improve your heart’s ability to relax, and decrease the forcefulness of the heartbeat and the pressure within the arteries. This prevents or slows down the enlargement of the aorta. Beta-blocker therapy should begin at an early age. If you can’t take beta-blockers because of asthma or side effects, your provider can prescribe a calcium channel blocker.

• Angiotensin receptor blockers: Angiotensin receptor blockers (ARB) are used to treat high blood pressure and heart failure. Recent clinical trials have shown that ARBs help slow the enlargement of the aorta as well as beta-blockers do.

Surgery #

The goal of surgery for Marfan syndrome is to prevent the aorta from dissecting or rupturing and to treat valve problems.

Decisions about surgery are based on:

• Size of your aorta.

• Expected normal size of the aorta.

• Rate of aortic growth.

• Your age, height and sex.

• Family history of aortic dissection. Two surgical techniques can be used to replace the enlarged area of the aorta with a graft:

• Traditional method: The aorta is replaced with a graft and the aortic valve is replaced with a mechanical valve.

• Valve-sparing modified reimplantation method: The aorta is replaced with a tube graft and your own aortic valve is put back in place. The valve-sparing method is done whenever possible and should be done by an experienced surgeon.