Marfan Syndrome

Marfan syndrome (MFS disease) is a genetic condition that makes your connective tissue too loose and elastic. Connective tissue typically provides strength and flexibility to many structures in your body. Because of this, Marfan syndrome can affect several body systems, including your heart, blood vessels, eyes, bones and joints.

Symptoms vary widely in severity, when they start and how quickly they progress. If you have Marfan syndrome, you usually have long limbs. But the biggest concern is a weakened aorta wall, which can be life-threatening.

Marfan syndrome is present at birth. But you may not get a diagnosis until you’re a teen or young adult. This syndrome is one of the most common inherited connective tissue diseases. It affects 1 in 3,000 to 5,000 people.

Marfan syndrome causes

A genetic change (variant) causes Marfan syndrome. There’s a change in the fibrillin-1 or FBN1 gene that gives your cells instructions to make fibrillin, a protein. This protein is the main part of elastic fibers in your connective tissue.

In most cases, you inherit Marfan syndrome from a biological parent. You only need to receive the altered gene from one parent to inherit the condition.

In some cases, a new gene change occurs due to an unknown cause.

Symptoms of Marfan syndrome

This syndrome can cause symptoms in many areas of your body.

Eye symptoms

These may include:

• Eye pain
• Dislocated eye lens (ectopia lentis)
• Vision changes, like blurred vision and extreme nearsightedness

Heart and blood vessel symptoms

These may include:

• Weakening or bulging of your aorta near your aortic valve (aortic root aneurysm)
• A skipping or fluttering heartbeat (heart palpitations)
• A heartbeat that feels too hard or too fast
• Shortness of breath
• Fatigue

Skeletal system symptoms

These may include:

• Arms, legs, fingers and toes that seem too long for the rest of your body
• Sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
• Leg numbness
• Back pain from a widened membrane around your spinal cord (dural ectasia)
• A long, narrow face
• Crowded teeth
• Curved spine (scoliosis)
• Flat feet
• Joints that are weak and dislocate easily

Complications of this condition

Marfan syndrome can cause several problems affecting your heart, eyes and lungs.

Cardiovascular complications are the most common issues from Marfan syndrome. They can include:

• Aortic dissection: This is a tear in the inner layer of your aorta’s wall.
• Heart valve disease: Heart valve tissue can become weak and stretch. You’re also at an increased risk of having a bicuspid aortic valve (a valve with two parts instead of the usual three parts).
• Enlarged heart: Your heart muscle may enlarge and weaken over time.
• Arrhythmia: An abnormal heart rhythm in MFS disease is often related to heart valve problems.
• Brain aneurysms: This is a bulge in a weak area of a blood vessel in or around your brain.

Eye complications may include:

• Cataracts: These are cloudy areas on your eye’s lens.
• Glaucoma: These diseases cause pressure buildup in your eye.
• Retinal detachment: Your retina can come loose from weak connective tissue.

The changes in lung tissue that happen with Marfan syndrome increase your risk for:

• Asthma: This condition makes your airways swell and fill with mucus.
• Bronchitis: This condition causes inflammation of your airways.
• Chronic obstructive pulmonary disease (COPD): This is damage to your airways or lungs.
• Pneumothorax: This is a collapsed lung (air between your chest wall and lung).
• Emphysema: This is a disease with damage to air sacs in your lungs.
• Pneumonia: This is inflammation in your lungs due to an infection.

How doctors diagnose this condition

Marfan syndrome can affect tissues all over your body. You may need a team of healthcare providers to confirm the diagnosis and develop a treatment plan.

To start, they’ll:

• Ask about your medical history
• Do a physical exam to look for typical signs of the syndrome
• Ask about your symptoms
• Ask about biological family members who may have had health problems related to Marfan syndrome

Healthcare providers typically use a set of criteria to diagnose Marfan syndrome. The main criteria are aortic root aneurysm (dilation) and a dislocated eye lens. A provider may request many tests to help confirm the diagnosis, like:

• CT scan: Can measure your aorta’s diameter to check for bulging (aneurysm)
• Chest X-ray: Can show a curved spine or malformed chest
• Echocardiogram: Can show problems with heart valve flaps closing or with your aorta wall
• MRI: Can show problems with your aorta and heart valve function

Genetic testing

A blood test can look for changes in the gene that causes most cases of Marfan syndrome or changes in other genes that cause similar symptoms. If you have the genetic variation that causes Marfan syndrome, let your family know. Your parents, siblings and children should get genetic counseling and testing, too.

A genetic counselor can also tell you how likely you are to pass this variation on to your children.

How is it treated?

There’s no cure for Marfan syndrome. But various treatments can help manage your symptoms and prevent complications. You’ll need a treatment plan that’s specific to your health issues.

Medications

Certain medications can prevent or slow the enlargement of your aorta. They include:

• Beta-blockers
• Angiotensin II receptor blockers (ARBs) or ACE inhibitors

If you get heart valve surgery for Marfan syndrome, you may need additional medication. You’ll have to take antibiotics before dental procedures to prevent infections. And if you have a mechanical valve (metal valve), you’ll be on a blood thinner to prevent strokes.

Monitoring

You’ll need routine medical visits to monitor your:

• Heart and blood vessels and the size of your aorta
• Eyes
• Skeletal system
• Blood pressure

This way, your care team can track changes and catch any possible complications as soon as they appear. Your team will tell you how often you need these appointments.

Monitoring for MFS disease usually involves imaging tests like those used for diagnosis.

Physical activity guidance

Intense physical activity can strain your aorta and the other connective tissues that this syndrome affects. Because of this, you’ll work closely with a physical therapist to find sports and activities that are safe for you.

Providers generally recommend low- to moderate-intensity physical activity for most people with Marfan syndrome. But you may need less if you have aortic root or valve replacement.

In general, you’ll likely need to avoid:

• Contact sports
• Activity to the point of exhaustion
• Isometric exercises, like planks and wall sits
• Heavy lifting that requires you to strain

Surgery

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

The most common surgeries and procedures for this disease include:

• Aortic valve repair or replacement
• Ascending aortic aneurysm repair
• Mitral valve repair or replacement
• Thoracic endovascular aortic repair

If you need surgery, you should try to choose a major health system that’s experienced in the type of surgery you’re getting. Your surgical team should be familiar with Marfan syndrome, as well.

In addition to heart and vascular surgeries, you may need surgery to correct scoliosis and problems with your eyes.

When should I see my healthcare provider?

See a provider if you have symptoms of this syndrome or if it’s in your family. If you have a Marfan syndrome diagnosis, you should visit your provider every year. This is to catch any symptoms that may be getting worse over time. You should also let your provider know if you’re experiencing side effects from your medications.

What can I expect if I have this condition?

If you have Marfan syndrome, you can expect a lot of medical appointments. MFS disease affects everyone differently, so you’ll have your own journey with the syndrome. You’ll work closely with your team of healthcare providers to manage this syndrome as it changes.

Due to increased knowledge of this syndrome and advanced medical treatments, people with Marfan syndrome live much longer today than in the past. The life expectancy of someone with this syndrome is now almost the same as people without it. But life expectancy is much lower in males than in females.

Cardiovascular problems are still the most common cause of death in Marfan syndrome. This is mainly due to sudden death in undiagnosed cases of the syndrome. It’s also more likely to affect people who get a late diagnosis.

Chronic pain and fatigue, as well as limits on physical activity, can impact your mental health. Because of this, you may be at a higher risk of anxiety and depression.

Be sure to seek help from a mental health specialist if you’re having distress related to this disease. Your mental health is just as important as your physical health. Joining a support group may also help.