What Is Marfan Syndrome?

A Genetic Disease Affecting the Heart, Blood Vessels, Eyes, and Bones

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Marfan syndrome is a genetic disorder that affects the body’s connective tissue. This can cause problems with the heart and blood vessels, eyes, bones, and other systems. Ultimately, this can lead to life-threatening complications, like aortic dissection

The condition occurs in around 1 in 4,000 individuals. It was named for Antoine Bernard-Jean Marfan, who first described it in 1896.

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Marfan Syndrome Symptoms

Marfan syndrome can cause many different symptoms related to problems in different parts of the body. Among the most important are heart and cardiovascular problems, issues with the skeletal system, and eye problems. 

Cardiovascular Symptoms

People with Marfan syndrome can have a variety of heart issues, some of which can be life-threatening. 

One critically important potential problem is aortic root aneurysm. When this happens, the beginning of the body’s largest blood vessel, the aorta, is ballooned out in size. This can lead to aortic dissection (a tear of the layers of the aorta) or an outright aortic rupture. Both are life-threatening emergencies. 

People with Marfan syndrome also have an increased risk of aneurysms in the later part of the aorta in the chest and abdominal region. This can also lead to life-threatening dissection or rupture. 

Seek immediate emergency medical attention for symptoms like sudden severe pain in your chest, back, or belly, shortness of breath, or stroke-like symptoms, such as sudden muscle weakness. These might be caused by an aortic dissection or rupture.

Sometimes the heart valves are affected in Marfan syndrome. For example, some people have a prolapsed mitral valve or an aortic valve that doesn’t work correctly. These valve issues may also increase the risk of endocarditis (infection of the valves). 

A minority of people with Marfan syndrome eventually develop problems with the heart muscle itself (Marfan cardiomyopathy), which might lead to symptoms like shortness of breath. 

Additionally, people with Marfan syndrome have an increased risk of dangerous heart rhythms. In some people, these can lead to sudden cardiac death.

Eye Issues

The most common eye issue is the displacement of the eye lens (ectopia lentis; lens subluxation). This issue tends to occur in a person’s 30s or 40s. It can lead to symptoms like blurred and double vision.

People with Marfan syndrome also have a much higher risk of certain other eye problems. These may occur at an earlier age than they typically would in people without Marfan syndrome. Some of these include:

It’s imperative to see a doctor promptly if you have any symptoms of potential retinal detachment. These might include:

  • Sudden increased number of eye “floaters”
  • Blurred vision
  • Greatly reduced peripheral vision
  • A curtain-like shadow over your visual field

Skeletal issues 

Skeletal issues are also common with Marfan syndrome. Some of these problems can lead to chronic pain and fatigue. Some potential issues are:

  • Joint and back pain
  • Scoliosis
  • Spondylolisthesis
  • Loss of some of the spine’s normal curves
  • Uneven leg length
  • Abnormal shape to the chest 
  • Joint hypermobility (which can lead to pain and easy dislocation)
  • Flat feet (pes planus)

Most people with Marfan syndrome are very tall with a slim build. They usually have long extremities and long fingers and toes. People with Marfan syndrome tend to have certain other physical features, like a long narrow skull, deep-set eyes, and an abnormally small jaw.

Other Potential Issues

Although not found in everyone with Marfan syndrome, some other potential problems include:

  • Repeated pneumothorax 
  • Stretchmarks (skin striae) without an obvious cause (like pregnancy)
  • Bronchiectasis or other lung issues
  • Obstructive sleep apnea
  • Chronic sinusitis
  • Inguinal hernias
  • Dental abnormalities
  • Pelvic organ prolapse and stress incontinence in women

It’s important to note that not all people with Marfan syndrome will have all these potential problems. For people who are eventually diagnosed, there is a lot of variation in the degree and type of symptoms present.

Some people have a severe version of the disease which is obvious at birth or early in infancy. In others, more subtle signs and symptoms might not appear until later in childhood or even adulthood. 

Some people with Marfan syndrome also experience depression or other psychological challenges from dealing with their condition.

Causes 

Marfan syndrome is a genetic disease caused by a problem with a gene called FBN1. This gene is needed to make a special type of protein called fibrillin-1. In someone with Marfan syndrome, the FBN1 gene is altered in some way. The fibrillin-1 therefore can’t work the way it normally should.

That’s a problem because fibrillin-1 is important for the body’s structure. It is a kind of scaffolding substance that helps give tissues their form and support. It’s found in many types of the body’s connective tissue—the tissue that supports, connects, and separates all other tissue types in the body.

For example, fibrillin-1 is an important part of the connective tissue found in certain blood vessels. It’s also important in the capsule holding the lens of the eye, muscle tendons, and other supportive connective tissues.

Not surprisingly, problems with fibrillin-1 often lead to symptoms in these parts of the body. 

Diagnosis

Unfortunately, the diagnosis of Marfan syndrome is sometimes delayed, especially in people with more subtle symptoms. As it is a rare disease, clinicians may not immediately consider it as a possibility.

Medical history provides the initial starting point. The clinician learns about the person’s current symptoms and their past medical problems. For example, Marfan syndrome should be considered in someone who has had a displaced eye lens, previous surgery on their aorta, or previous pneumothorax.

Family history gives important clues because the disease runs in families. If it’s already known that someone in the family has Marfan syndrome, that greatly increases the likelihood.

A medical exam also gives the clinician important information. For example, the presence of skin stretch marks and a sunken chest (pectus excavatum) in someone with a very tall, thin build might make a doctor consider Marfan syndrome. 

Clinicians can also use other physical indicators. For example, the doctor might ask the person to fold their thumb inside their fist. If the thumb extends beyond the palm of the hand, Marfan syndrome is a strong possibility.

Along with the medical history, these physical signs and symptoms are often enough to diagnose Marfan syndrome. Sometimes medical imaging tests can be helpful too. For example, an echocardiogram might reveal dilation of the aorta, an important diagnostic clue.

Sometimes, genetic testing can also be of benefit. This may be particularly helpful to distinguish Marfan syndrome from conditions that can have some similar symptoms (like Ehlers-Danlos syndrome and Loeys-Dietz syndrome). It can also be helpful if the diagnosis isn’t quite clear from the signs and symptoms alone. 

However, genetic information can be complicated. Some people who have a mutation in FBN1 don’t qualify for a diagnosis of Marfan syndrome because they just don’t have enough characteristics of the disease. Such people might be told that they have “incomplete Marfan syndrome,” or a “Marfan-related” disorder.

Once diagnosed, it’s important to be evaluated for various problems that can be related to Marfan syndrome. For example, this might include:

  • Electrocardiogram (EKG)
  • Echocardiogram
  • Cardiac magnetic resonance imaging (MRI)
  • MRI of the spine
  • Detailed eye exam by a specialist

Treatment

Unfortunately, we don’t have treatments that can cure Marfan syndrome. Instead, treatment focuses on managing symptoms and preventing complications. 

The details of your treatment plan will depend on your specific issues and challenges. Ideally, a multidisciplinary team of cardiologists, ophthalmologists, surgeons, rehabilitation specialists, and other professionals will work together to manage your care.

It’s often helpful to be treated in a specialty medical center where they have experience managing Marfan syndrome. 

Preventing and Treating Aortic Dissection

A key part of treatment is preventing aortic dissection or rupture. Medications can help lower the blood pressure and make this less likely. 

Beta blocker drugs like Lopressor (metoprolol) are commonly prescribed. Some people are also prescribed angiotensin II receptor blockers (ARBs), such as Cozaar (losartan) to help reduce strain on this area.

People with Marfan syndrome need to have regular imaging of their heart to make sure the early part of the aorta hasn’t become too enlarged. This can be done with an echocardiogram or CT scan every one or two years.

If the aorta becomes too large, if it is increasing in size rapidly, or if the aortic valve is working poorly, surgery is recommended. For example, a surgery called the Bentall procedure can help repair the early aorta and the valve. Depending on the context you might also need repair of another valve, like the mitral valve.

Because this is a very serious surgery, doctors don’t like to perform it unless they feel like the risks of aortic dissection or rupture are greater than the risks of the surgery itself. However, at a certain point, surgery becomes the safer choice. 

People who get an artificial replacement valve will need to stay on life-long anticoagulant therapy, to help prevent blood clots from forming on the new valve.

Other Treatments

Depending on the context, other treatments for people with Marfan syndrome might include:

  • Eyeglasses for minor eye problems
  • Surgery to repair a dislocated lens or displaced retina
  • Surgery for severe scoliosis
  • Surgery to correct a severe chest deformity
  • CPAP for people with obstructive sleep apnea
  • Wrist or finger splints, to help manage loose joints
  • Orthotic shoes
  • Orthodontic care

People with Marfan syndrome should also have a complete eye exam once a year, even if they don’t have any current eye symptoms. This can help identify possible retinal detachment and other issues before they become severe and more difficult to treat.

Depending on the context, individuals may need other regular tests as well, such as lung function tests or imaging tests of the spine. 

Lifestyle

Exercise is important for people with Marfan syndrome, as it can help maintain strength and decrease pain. However, this should be low to moderate intensity, to avoid certain complications. People with Marfan syndrome should avoid contact sports, which might cause chest trauma, damage to the spine, or eye complications.

Physiotherapy can be very helpful to help people maintain strength, although it cannot correct the problem of overly loose joints.

It’s also important that people with Marfan syndrome protect their heart and blood vessels in other ways. For example, smoking increases the risk of aortic dissection in people with Marfan syndrome. So it’s even more important that these individuals quit smoking than it is for people without Marfan syndrome.

Pregnancy

People with Marfan syndrome can still get pregnant and have healthy pregnancies. However, there is an increased risk of complications for both mother and child. The most significant potential problem is aortic dissection, which can threaten the life of both mother and baby.

If you have Marfan syndrome and are thinking about becoming pregnant, talk to your doctor. That way, you can fully understand your risks and make plans to maximize your chance of a healthy pregnancy.

If you get pregnant, you’ll need to work with specialists experienced in this area. Many people also find it helpful to speak with a genetic counselor. 

Inheritance

Marfan syndrome is inherited as an autosomal dominant genetic disease. That means that if someone has Marfan syndrome, they have a 50% chance that their child will get the disease. However, the manifestations of the disease can be very different, even in the same family.

Some people also get Marfan syndrome, even when nobody else in their family has ever had it. 

If someone in the family has been diagnosed with Marfan syndrome, it’s a good idea to have all first-degree relatives tested (siblings, parents, and children). Because symptoms are sometimes subtle, it’s important to seek medical evaluation. 

This might help prevent a life-threatening complication from undiagnosed Marfan syndrome. It’s also very helpful for family planning purposes.

Prognosis

Until the 1970s, around half of people with Marfan syndrome died in their 40s or earlier. Since then, life expectancy has increased by 30 more years.

Because of better monitoring and better surgical techniques, fewer people die young from problems related to the aorta. With proper care, most people with Marfan syndrome can live a normal lifespan. 

A Word From Verywell

It can be a shock to learn that you or someone you love has been diagnosed with Marfan syndrome, a lifelong disease without a cure. However, we’ve come a long way in helping people with Marfan syndrome lead regular lives. A team of professionals will help manage your care so you can focus on leading the life you want. 

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