Marfan syndrome affects the connective tissue that holds your body together. Since the syndrome affects various parts of your body, you’ll need a team of healthcare providers to manage it. Close monitoring and treatments can help you live a healthy life.

What Is Marfan Syndrome?

Many people with Marfan syndrome develop changes in their heart and blood vessels.

Marfan syndrome (MFS) 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.

Healthcare providers call Marfan syndrome a “variable expression” genetic condition. This means not everyone has the same symptoms. The signs and symptoms vary widely in severity and when they start.

Marfan syndrome is present at birth. But you may not get a diagnosis until you’re a teen or young adult. It’s one of the most common inherited connective tissue diseases, affecting 1 in 3,000 to 5,000 people. That’s 0.02% to 0.03% of people.

Symptoms and Causes

Symptoms of Marfan syndrome

The two main features of Marfan syndrome are aortic root aneurysm (widening or bulging of your aorta near your aortic valve) and dislocated eye lens (ectopia lentis).

These two issues can lead to symptoms like:

But Marfan syndrome can affect several other parts of your body, causing other symptoms. For example, physical features of Marfan syndrome may include:

Complications of this condition

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

Cardiovascular complications are the most common complications of Marfan syndrome (MFS). They can include:

Eye complications may include:

The changes in lung tissue that occur with MFS increase your risk for:

What causes Marfan syndrome?

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

In most cases, you inherit Marfan syndrome from a biological parent. The syndrome has an autosomal dominant inheritance. This means you only need to receive the altered gene from one parent to inherit the condition. People with Marfan syndrome have a 50% chance of passing on the disorder to each of their children.

In 25% of Marfan syndrome cases, a new gene change occurs due to an unknown cause.

Diagnosis and Tests

How doctors diagnose Marfan syndrome

Marfan syndrome can affect tissues all over your body. So, 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 MFS

Healthcare providers typically use a set of criteria to diagnose MFS called the Ghent nosology. They may recommend many tests to help confirm the diagnosis or rule out other conditions, like:

A genetic test (blood test) can look for changes in FBN1, the gene that’s responsible for most cases of Marfan syndrome. But the results of genetic tests for Marfan syndrome aren’t always clear. This test can also look for other genetic conditions, like Loeys-Dietz syndrome, that cause similar symptoms.

Management and Treatment

How is Marfan syndrome treated?

There’s no cure for Marfan syndrome. But various treatments and strategies can help manage your symptoms and prevent complications, like:

  • Medications
  • Routine monitoring
  • Physical activity guidance
  • Surgery

You’ll need a treatment plan that’s specific to your health issues.

Medications

Certain medications can help prevent or manage complications, including:

  • Beta-blockers. Beta-blockers prevent or slow down the enlargement of your aorta. Healthcare providers recommend beta-blocker therapy at an early age for MFS. If you can’t take them because of asthma or side effects, your provider can prescribe a calcium channel blocker.
  • Angiotensin II receptor blockers (ARBs). ARBs may also slow the rate of aorta enlargement in people with MFS.

If you get heart valve surgery for MFS, you’ll need to be on an anticoagulant medication for the rest of your life.

Monitoring

You’ll need routine medical appointments to monitor your:

  • Heart and blood vessels — in particular, the size of your aorta
  • Eyes
  • Skeletal system

This way, your healthcare 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 usually involves imaging tests, like:

  • CT scans
  • Echocardiograms
  • MRI scans

Physical activity guidance

Intense physical activity can strain your aorta and other connective tissues impacted by MFS. Because of this, you’ll work closely with a physical therapist to find exercises and sports that are safe for you.

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

In general, you’ll likely need to avoid:

Heart surgery

The goal of heart surgery for Marfan syndrome is to prevent your aorta from dissecting or rupturing and to treat valve problems. Together, you and your healthcare team will decide if surgery is right for you based on several factors.

The most common surgeries and procedures for MFS include:

If you need surgery, you should aim 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.

Outlook / Prognosis

What can I expect if I have Marfan syndrome?

If you have Marfan syndrome, you can expect a lot of medical appointments and needing to have a thorough understanding of your body. MFS 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 MFS as it changes.

Due to increased knowledge of MFS and advanced medical treatments, people with MFS live much longer than they did before the 1970s. The life expectancy of someone with MFS is now almost the same as it is for people without MFS. But life expectancy is significantly lower in males than in females.

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

MFS and mental health

Several aspects of living with Marfan syndrome can impact your mental health and quality of life, like:

  • The chronic nature of MFS and the need for lifelong treatment
  • The ways MFS affects your appearance
  • Chronic pain and fatigue
  • Limits on physical activity, which are often social interactions
  • Family planning stressors

Because of this, you may be at higher risk of:

Caregivers and family members of people with MFS are also at risk of these mental health issues.

Be sure to seek help from a mental health specialist (like a psychologist) if you’re experiencing distress related to MFS. Your mental health is just as important as your physical health. Joining a support group may also help.

A note from Wockr

Life with Marfan syndrome may feel like spinning through a revolving door of medical appointments, treatments and lifestyle changes. But all those check-ins can help prevent complications of Marfan syndrome so you can live the healthiest life possible. Your healthcare team will be by your side through it all. Lean on them for support and guidance. If you’re becoming overwhelmed, reach out to a mental health specialist for help.