Marfan Syndrome

Also known as MFS
Marfan syndrome is a genetic condition that affects a protein in the body that helps build healthy connective tissues. Connective tissues support the bones, muscles, and organs in your body and allow your skin, blood vessels, and ligaments to stretch.

Some people who have Marfan syndrome have few or no signs or symptoms, while others experience serious symptoms or life-threatening complications. Symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. People who have Marfan syndrome may be tall and thin with long arms, legs, fingers, and toes, as well as flexible joints. The most serious complications are problems in the heart and blood vessels, such as weakening or bulging of the aorta.

Your doctor may recommend medicines, surgery, or other treatments to manage or prevent complications. Limiting certain activities, or changing how you do them, may help reduce or prevent complications in the heart, eyes, and joints.

Explore this Health Topic to learn more about Marfan syndrome, our role in research and clinical trials to improve health, and where to find more information.

Causes - Marfan Syndrome

Marfan syndrome is a genetic condition caused by a Mutation, or change, in one of your genes, called the fibrillin-1 (FBN1) gene. The FBN1 gene makes fibrillin-1, which is a protein that forms elastic fibers within connective tissue. Fibrillin-1 also affects levels of another protein that helps control how you grow.

Most people who have Marfan syndrome inherit it from their parents. Sometimes, the mutation that causes Marfan syndrome is not passed down from a parent but happens by chance while the unborn baby is developing in the womb.

How is Marfan syndrome inherited?
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When a parent has Marfan syndrome, there is a 50 percent chance that their child will have it. Every person inherits two FBN1 genes, one gene from each parent. Children who inherit an FBN1 gene with a mutation from one parent will have Marfan syndrome even if they have a normal FBN1 gene from the other parent.

Inheritance pattern for Marfan syndrome
Inheritance Pattern for Marfan Syndrome. This image shows how FBN1 genes are inherited. A person inherits two copies of the FBN1 gene, one from each parent. If one parent has Marfan syndrome, each child has a 50 percent chance of inheriting a mutated FBN1 gene and having Marfan syndrome.

What does fibrillin-1 do?

Risk Factors - Marfan Syndrome

Marfan syndrome affects people of all races and ethnicities and men and women equally.

Your risk for Marfan syndrome is higher if one or both parents have the condition. Learn how Marfan syndrome is inherited and the risk of passing the condition on to a child in our Causes section.

Screening and Prevention - Marfan Syndrome

If you have a known family history of Marfan syndrome or physical features of the condition, your doctor may recommend screening to find the condition early. Relatives of people who have Marfan syndrome may also want to have genetic screening. There is no way to prevent Marfan syndrome.

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To screen for Marfan syndrome, your doctor may do a physical exam, including a check for certain body features common to the condition, and may ask about your symptoms. Depending on your age, your doctor may suggest a genetic test.

Genetic testing
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Siblings, parents, or children of a person who has Marfan syndrome—also known as first-degree relatives—may want to have genetics testing for the condition even if they do not have symptoms. Other relatives, such as first cousins and half-siblings, may be tested if they have symptoms or if the family is concerned that the person may have Marfan syndrome. Learn more in Diagnosis.

Prevention strategies
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There is no way to prevent Marfan syndrome. Couples who are planning to have children and know that they are at risk of having a child with Marfan syndrome may want to meet with a genetic counselor. A genetic counselor can answer questions about the risk and explain the choices that are available.

Signs, Symptoms, and Complications - Marfan Syndrome

Signs and symptoms of Marfan syndrome depend on which parts of the body are affected and the severity of the condition. Some people have few or no signs or symptoms, while others experience severe symptoms or life-threatening complications.

Signs and symptoms
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Signs and symptoms of Marfan syndrome may include:

  • A chest that sinks in or sticks out
  • A long head with deep-set eyes
  • A tall, thin build
  • Eye problems, including blurred vision or trouble seeing things that are far away. This can be caused by the lens in one or both eyes moving out of place, which is often the first sign of Marfan syndrome.
  • Flat feet
  • Flexible joints
  • Heart palpitations or a heart murmur
  • Long arms, legs, fingers, and toes
  • Pain, particularly in the lower back
  • Scoliosis, a condition marked by a curving of the spine to one side
  • Stretch marks on the skin that were not caused by weight gain or loss. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.
  • Teeth that are too crowded or that are weak and more likely to break or have cavities

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Marfan syndrome most commonly affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and spinal cord. However, the condition can affect many parts of the body.

The most serious complications are in the heart and aorta and may include:

  • Aortic aneurysm. Marfan syndrome can cause the aorta to weaken and widen. Often this happens at the place where the aorta connects with the heart. Aortic aneurysms are at risk of dissection, which is when the inner layer of the aortic wall tears. It causes blood to collect between the inner and middle layers of the aortic wall. This may lead to a rupture of the aorta or not enough blood flow to your organs. Sometimes the aneurysm occurs in the pulmonary artery in addition to or instead of the aorta.
  • Heart valve diseases. Marfan syndrome can cause problems with the aortic valve and the mitral valve. Aortic aneurysm may cause the aortic valve to not work properly, so that blood flows backward into the heart, called aortic regurgitation. Also, the mitral valve, which separates the left ventricle and atrium, can become “floppy” and not form a tight seal. This can cause blood to flow backward into the left atrium, called mitral regurgitation. Heart valve problems cause your heart to work harder, which may lead to heart failure.
  • Arrhythmia. Heart valve diseases or other heart problems caused by Marfan syndrome can lead to an irregular heartbeat.

Other complications may include:

  • Dental problems, such as gum problems or a jawbone that becomes unhinged from the skull
  • Dural ectasia, in which the connective tissue that wraps around and protects your spinal cord and brain stretches and weakens. This can happen as people who have Marfan syndrome grow older and can lead to lower back or abdominal pain, headache, and numbness in the legs.
  • Eye problems, such as a retina detaching, which can affect your eyesight. Other eye problems include being able to see objects clearly only if they are close to you, cloudiness in the eye called cataracts, and high pressure in the eye called glaucoma.
  • Lung problems, such as Pneumothorax, that can cause the lung to collapse. People who have Marfan syndrome may also have problems breathing if a curved spine or sunken chest prevents the lungs from expanding fully. Occasionally, lung conditions such as bronchiectasis or interstitial lung disease can develop.
  • Sleep apnea, due to the shape of the face, oral cavity, or teeth in some people who have Marfan syndrome

Diagnosis - Marfan Syndrome

Your doctor will diagnose Marfan syndrome based on your medical and family history, a physical exam, and test results. No single test can diagnose Marfan syndrome, so doctors use a set of guidelines called the Ghent criteria to help. The Ghent criteria include whether the diameter of your aorta is larger than normal, whether your eye lens has ever moved out of place, whether you have certain physical signs of Marfan syndrome, and sometimes genetic testing.

If you are diagnosed with Marfan syndrome, all of your first-degree relatives, including parents, siblings, and children, should be screened for the disorder, even if they do not have signs and symptoms.

Medical and family history
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Your doctor will ask about signs and symptoms, your medical history, and your family’s medical history. For example, your doctor may ask whether any of your family members have Marfan syndrome, have had an aortic aneurysm, or have had heart problems.

Physical exam
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During the physical exam, your doctor will look for signs of Marfan syndrome. For example, he or she may check the curve of your spine and the shape of your feet.

Diagnostic tests and procedures
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Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome:

  • Chest CT scan to check your heart valves and aorta and possibly the connective tissue around your spinal cord
  • Chest MRI to create detailed pictures of the organs in your chest, including your heart, lungs, and blood vessels
  • Echocardiography (echo) to view and measure the size of your aorta or check the heart’s valves
  • Genetic testing to detect mutated FBN1 genes. Genetic testing involves blood tests to detect mutations in the FBN1 genes. Many different mutations within the FBN1 gene can cause Marfan syndrome, so no single blood test can diagnose the condition. Sometimes testing for an abnormal FBN1 gene can help tell whether you have Marfan syndrome if you have other signs and symptoms.
  • Slit-lamp exam to find out whether you have an eye lens that is out of place, cataracts, or a detached retina. An eye specialist or ophthalmologist uses a slit lamp, a microscope with a light, to check your eyes.

Treatment - Marfan Syndrome

While Marfan syndrome has no cure, treatments can help delay or prevent complications, especially when started early. The type of treatment you receive will depend on what parts of your body are affected and the severity of your condition. You may have a team of doctors and specialists to coordinate your care.

Your healthcare team
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In addition to your primary care doctor, your healthcare team may include:

  • A cardiothoracic surgeon
  • A genetic counselor
  • Doctors specializing in the cardiovascular system (cardiologist), eyes (ophthalmologist), and skeleton (orthopedist)
  • Nurses

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Your doctor may recommend blood pressure medicines to relieve any strain on or bulging of the aorta. These medicines help your heart beat slower and with less force.

  • Beta blockers or angiotensin receptor blockers (ARBs) are the most common. Side effects of these medicines may include Fatigue or feeling lightheaded or sick to your stomach.
  • Calcium channel blockers or angiotensin converting enzyme (ACE) inhibitors may be prescribed if you have side effects from beta blockers or ARBs.

Surgery to repair the aorta or heart valves
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If your aorta is larger than normal, your doctor may recommend surgery to repair or replace part of the aorta to prevent it from rupturing or tearing open. If you have an aortic dissection or rupture, you will need emergency surgery to repair the aorta.

Your aortic valve may also be replaced with a mechanical or biological valve made from animal tissue. The valve may be replaced during the open surgery to repair the aneurysm.

If you have mitral regurgitation—where your blood flows backward into your left atrium—your doctor may recommend surgery to repair or replace your mitral valve.

Other surgeries and procedures
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Your doctor may also recommend surgery for one of the following reasons:

  • To repair severe scoliosis. For less severe scoliosis, your doctor may suggest a brace or other device to prevent the condition from getting worse.
  • To repair a chest that sinks in or sticks out. This surgery is done to prevent the chest from pressing on the lungs and heart.
  • To repair a collapsed lung from pneumothorax
  • To repair a dislocated lens or detached retina in your eye

Living With - Marfan Syndrome

If you have been diagnosed with Marfan syndrome, it is important to follow your treatment plan, make healthy lifestyle changes, and get mental health support. Learn how to prevent or reduce complications in the future. If you are thinking about becoming pregnant, discuss the possible risks with your doctor.

Receive routine follow-up care
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How often you need to see your doctor for follow-up care will depend on your treatment and symptoms.

  • Ask your doctor how often to schedule follow-up visits.
  • Continue any medicines as prescribed by your doctor, including those to control other medical conditions such as high blood cholesterol and high blood pressure.
  • Get regular dental check-ups. People who have Marfan syndrome often have teeth, gum, or jaw problems that require regular care. If your teeth are crowded, you might need braces or more regular cleaning visits to reduce gum inflammation and the risk of an infection of the inner lining of your heart chambers and valves. You will likely need to take antibiotics before dental procedures to help prevent infection.
  • Follow your doctor’s recommendations for adopting healthy lifestyle changes, such as heart-healthy eating, being physically active, quitting smoking, managing stress, and aiming for a healthy weight.
  • Tell your doctor if your medicines are causing side effects.

Return to Treatment to review possible treatment options for Marfan syndrome.

Monitor your condition
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To monitor your condition, your doctor may recommend the following tests:

  • Annual checkups with a bone specialist or orthopedist to look for changes in your spine and breastbone.
  • Regular eye exams with an eye specialist or ophthalmologist to find and treat problems early.
  • Regular imaging tests to check for problems with your heart valves and measure your aorta.

People who have Marfan syndrome may need more than one heart or blood vessel surgery over time. After surgery, you may need medicines and regular monitoring. Follow all medical instructions given by your doctor. Recovery after open surgery may take months.

Prevent or reduce complications over your lifetime
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To help prevent complications from Marfan syndrome, your doctor may recommend you avoid the following:

  • Certain physical activities, such as contact sports, intense physical activity, and weightlifting, that can put strain on the heart or joints or make it more likely for your eye lens to move out of place. Your doctor can suggest ways to get exercise while reducing the risk of problems.
  • Certain medicines, such as triptan headache medicines that narrow your blood vessels and decongestant cold medicines that can increase blood pressure and put stress on your blood vessels.
  • Breathing against resistance, such as when playing a brass instrument, or positive pressure ventilation, such as when SCUBA diving, if you are at risk of pneumothorax.
  • Illegal drugs, such as cocaine or amphetamines, that can strain your heart.

Take care of your mental health
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Living with Marfan syndrome may cause fear, anxiety, depression, and stress. Talk about how you feel with your healthcare team. Your doctor may recommend:

  • Talking to a professional counselor. If you are depressed, your doctor may also suggest medicines or other treatments that can improve your quality of life.
  • Joining a patient support group. You can see how other patients manage similar symptoms and conditions. Talk with your doctor about where to find local support groups or check with an area medical center.
  • Seeking support from family and friends, which can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.

Learn the warning signs of serious complications and have a plan
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If you have Marfan syndrome, you are at risk for a life-threatening aortic dissection. If your aorta is weaker or larger than normal, it is important to know the signs and symptoms of a dissection or rupture, which may include:

  • Sudden, severe pain in your abdomen, chest, or back. The pain can travel upward or downward.
  • Light-headedness
  • Paleness
  • Rapid heart rate or palpitations

If you have symptoms of aortic dissection or rupture, call 9-1-1.

To prepare for an emergency:

  • Carry an emergency alert card. This card lists important information about your health. It can help medical personnel and others care for you during an emergency.
  • Tell the people you see regularly, such as family, friends, or coworkers, that you are at risk for aortic dissection. Describe the symptoms of this condition, and tell them to call 9-1-1 if you have these symptoms.

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Many women who have Marfan syndrome have safe and healthy pregnancies and deliveries. However, there are some added risks during pregnancy and delivery. The most serious risk is aortic dissection due to extra strain on the heart. If you have Marfan syndrome and have already experienced aortic dissection, it is not safe for you to become pregnant.

If you are thinking about getting pregnant, talk with an obstetrician, a doctor who cares for pregnant women, who is familiar with your condition and has experience with high-risk pregnancies. Your doctor might recommend that you have surgery to fix your aorta before you try to get pregnant. Your doctor will also make sure that your medicines are safe to take during pregnancy.

Research for Your Health

The NHLBI is part of the U.S. Department of Health and Human Services’ National Institutes of Health (NIH)—the Nation’s biomedical research agency that makes important scientific discovery to improve health and save lives. We are committed to advancing science and translating discoveries into clinical practice to promote the prevention and treatment of heart, lung, blood, and sleep disorders, including Marfan syndrome. Learn about current and future NHLBI efforts to improve health through research and scientific discovery.

Improving health with current research
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Learn about the following ways the NHLBI continues to translate current research into improved health for people with Marfan syndrome. Research on this topic is part of the NHLBI’s broader commitment to advancing heart and vascular disease scientific discovery.

Learn about some of the pioneering research contributions we have made over the years that have improved clinical care.

Advancing research for improved health
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In support of our mission, we are committed to advancing research into vascular and genetic diseases, including Marfan syndrome, in part through the following ways.

  • We perform research. Our Division of Intramural Research, which includes investigators from our Cardiovascular Branch, performs research on diseases, such as Marfan syndrome, that affect the heart and blood vessels.
  • We fund research. The research we fund today will help improve future health. Our Division of Cardiovascular Sciences oversees much of the research on vascular diseases we fund, helping us to understand, prevent, and manage vascular disorders. Search the NIH RePORTer to learn about research that we are funding on Marfan syndrome.
  • We stimulate high-impact research. The NHLBI Strategic Vision highlights ways we may support research over the next decade.

Learn about exciting research areas the NHLBI is exploring that involve Marfan syndrome.

Participate in NHLBI Clinical Trials

We lead or sponsor many studies aimed at preventing, diagnosing, and treating heart, lung, blood, and sleep disorders. See if you or someone you know is eligible to participate in our clinical trials.

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human heart anatomy green
Research Feature
[embed type:node embed_type:image id:26346 align:right]For years, people familiar with the rare condition known as Marfan syndrome viewed it as an untreatable disease that too often resulted in early death, mainly from heart problems. The genetic disorder, which acts on the body’s connective tissue, is difficult to diagnose, and nearly half of...