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What Is Marfan Syndrome?

Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.

Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.

Overview

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.

Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children.

In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition.

Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:

  • A tall, thin build.
  • Long arms, legs, fingers, and toes and flexible joints.
  • A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis).
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively.
  • Teeth that are too crowded.
  • Flat feet.

Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few.

The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation (di-LA-shun) or aortic aneurysm (AN-u-rism).

If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death.

Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how you do them, may help reduce the risks to the aorta, eyes, and joints.

The type of treatment you receive depends on how the condition is affecting your body.

Outlook

About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition.

Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.

Researchers continue to study the condition and look for better treatments.




What Causes Marfan Syndrome?

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.

Most people who have Marfan syndrome inherit it from their parents. If you have the condition, you have a 50 percent chance of passing the altered gene to each of your children.

Sometimes Marfan syndrome isn't inherited. The mutation in the fibrillin gene occurs in the egg or sperm cells. If a child is conceived, the altered gene may be passed on to the child. The risk of that child's brothers or sisters having Marfan syndrome is low.




Who Is at Risk for Marfan Syndrome?

People at highest risk for Marfan syndrome are those who have a family history of the condition. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children.

Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, and children, and people of all races, can have the condition.




What Are the Signs and Symptoms of Marfan Syndrome?

Marfan syndrome can affect many parts of the body. As a result, the signs and symptoms of the disorder vary from person to person, even in the same family.

Marfan complications also vary, depending on how the condition affects your body. Marfan syndrome most often affects the connective tissue of the heart, eyes, bones, lungs, and covering of the spinal cord. This can cause many complications, some of which are life threatening.

Marfan Traits

Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:

  • A tall, thin build.
  • Long arms, legs, fingers, and toes and flexible joints.
  • A spine that curves to one side. This condition is called scoliosis.
  • A chest that sinks in or sticks out. These conditions are called pectus excavatum and pectus carinatum, respectively.
  • Teeth that are too crowded.
  • Flat feet.

Stretch marks on the skin also are a common trait in people who have Marfan syndrome. Stretch marks usually appear on the lower back, buttocks, shoulders, breasts, thighs, and abdomen.

Not everyone who has these traits has Marfan syndrome. Some of these traits also are signs of other connective tissue disorders.

Complications of Marfan Syndrome

Heart and Blood Vessel Complications

The most serious complications of Marfan syndrome involve the heart and blood vessels.

Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation or aortic aneurysm.

If the aorta stretches and grows weak, it may tear and leak blood. This condition, called aortic dissection, can lead to severe heart problems or even death.

Aortic dissection can cause severe pain in either the front or back of the chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 9–1–1.

Marfan syndrome also can cause problems with the heart's mitral (MI-trul) valve. This valve controls blood flow between the upper and lower chambers on the left side of the heart. Marfan syndrome can lead to mitral valve prolapse (MVP).

MVP is a condition in which the flaps of the mitral valve are floppy and don't close tightly. MVP can cause shortness of breath, palpitations (pal-pi-TA-shuns), chest pain, and other symptoms.

If you have MVP, your doctor may hear a heart murmur if he or she listens to your heart with a stethoscope. A heart murmur is an extra or unusual sound heard during the heartbeat.

Eye Complications

Marfan syndrome can cause many eye problems. A common problem in Marfan syndrome is a dislocated lens in one or both of the eyes. In this condition, the lens (the part of the eye that helps focus light) shifts up, down, or to the side. This can affect your eyesight. A dislocated lens often is the first sign that someone has Marfan syndrome.

Other eye complications of Marfan syndrome include nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and early cataracts (clouding of an eye's lens). A detached retina also can occur.

Nervous System Complications

Fluid surrounds your brain and spinal cord. A substance called dura covers the fluid. In Marfan syndrome, the dura can stretch and grow weak.

This condition, called dural ectasia (ek-TA-ze-ah), can occur in people who have Marfan syndrome as they grow older. Eventually, the bones of the spine may wear away.

Symptoms of this condition are lower back pain, abdominal pain, headache, and numbness in the legs.

Lung Complications

Marfan syndrome can cause sudden pneumothorax (noo-mo-THOR-aks), or collapsed lung. In this condition, air or gas builds up in the space between the lungs and chest wall. If enough air or gas builds up, a lung can collapse.

The most common symptoms of a collapsed lung are sudden pain in one side of the lung and shortness of breath.

Conditions such as scoliosis (a curved spine) and pectus excavatum (a chest that sinks in) can prevent the lungs from expanding fully. This can cause breathing problems. Marfan syndrome also can cause changes in the lung tissue, and it can lead to early emphysema (em-fi-SE-ma).

Marfan syndrome also has been linked to sleep apnea. In people who have Marfan syndrome, the shape of the face, oral cavity, or teeth may increase the risk of sleep apnea. Sleep apnea causes one or more pauses in breathing or shallow breaths while you sleep.

Breathing pauses can last from a few seconds to minutes. They often occur 5 to 30 times or more an hour. Typically, normal breathing then starts again, sometimes with a loud snort or choking sound.




How Is Marfan Syndrome Diagnosed?

Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and test results. He or she also will consult a set of guidelines called Ghent criteria, which are used to diagnose Marfan syndrome.

Marfan syndrome can be hard to diagnose. This is because its signs, or traits, are the same as or similar to the signs of other connective tissue disorders.

If you're diagnosed with Marfan syndrome, all of your first-degree relatives (for example, parents, siblings, and children) also should be checked for the disorder. This is because, even in families, the outward traits of Marfan syndrome may vary quite a bit.

Specialists Involved

Your family doctor or another type of doctor, such as an orthopedist (bone specialist), may notice certain traits that suggest Marfan syndrome.

If so, your doctor will likely refer you to a geneticist or cardiologist. A geneticist is hereditary disease expert. A cardiologist is a heart specialist. These two types of specialists often have the most experience working with people who have Marfan syndrome.

A geneticist will ask for medical information about you and your family. He or she will examine you and perhaps other members of your family. The geneticist also will coordinate your visits with other doctors, including a cardiologist, an ophthalmologist (eye specialist), and an orthopedist.

After reviewing the medical findings, the geneticist will determine whether you have Marfan syndrome.

Medical and Family Histories

Your doctor will ask about your medical history and your family's medical history. For example, your doctor may ask whether:

  • You've had heart disease, eye problems, or problems with your spine. These complications are common in people who have Marfan syndrome.
  • You have shortness of breath, palpitations, or chest pain. These are common symptoms of heart or lung problems linked to Marfan syndrome.
  • Any of your family members have Marfan syndrome, have died from heart problems, or have died suddenly.

Physical Exam

During the physical exam, your doctor will look for Marfan syndrome traits. For example, he or she may check the curve of your spine and the shape of your feet. Your doctor also will listen to your heart and lungs with a stethoscope.

Diagnostic Tests

Your doctor may recommend one or more of the following tests to help diagnose Marfan syndrome.

Echocardiography

Echocardiography (EK-o-kar-de-OG-ra-fee), or echo, is a painless test that uses sound waves to create pictures of your heart and blood vessels.

This test shows the size and shape of your heart and the diameter of your aorta or other blood vessels. (The aorta is the main artery that carries oxygen-rich blood to your body.) Echo also shows how well your heart's chambers and valves are working.

For people who have Marfan syndrome, echo mainly is used to check the heart's valves and aorta.

Magnetic Resonance Imaging and Computed Tomography Scans

Magnetic resonance imaging (MRI) is a test that uses radio waves and magnets to create detailed pictures of your organs and tissues. Computed tomography (CT) uses an x-ray machine to take clear, detailed pictures of your organs.

MRI and CT scans are used to check your heart valves and aorta. These scans also are used to check for dural ectasia, a nervous system complication of Marfan syndrome.

Slit-Lamp Exam

For this test, an ophthalmologist (eye specialist) will use a microscope with a light to check your eyes. A slit-lamp exam can find out whether you have a dislocated lens, cataracts, or a detached retina.

Genetic Testing

In general, genetic testing involves blood tests to detect changes in genes. However, because many different genetic changes can cause Marfan syndrome, no single blood test can diagnose the condition.

Ghent Criteria

Because no single test can diagnose Marfan syndrome, doctors use a set of guidelines called Ghent criteria to help diagnose the condition. The Ghent criteria are divided into major criteria and minor criteria. Sometimes genetic testing is part of this evaluation.

Major criteria include traits that are common in people who have Marfan syndrome. Minor criteria include traits that are common in many people. Doctors use a scoring system based on the number and type of Ghent criteria present to diagnose Marfan syndrome.

Talk with your doctor about which traits you have and your likelihood of having Marfan syndrome.




How Is Marfan Syndrome Treated?

Marfan syndrome has no cure. However, treatments can help delay or prevent complications, especially when started early.

Marfan syndrome can affect many parts of your body, including your heart, bones and joints, eyes, nervous system, and lungs. The type of treatment you receive will depend on your signs and symptoms.

Heart Treatments

Aortic dilation, or aortic aneurysm, is the most common and serious heart problem linked to Marfan syndrome. In this condition, the aorta—the main artery that carries oxygen-rich blood to your body—stretches and grows weak.

Medicines are used to try to slow the rate of aortic dilation. Surgery is used to replace the dilated segment of aorta before it tears.

If you have Marfan syndrome, you'll need routine care and tests to check your heart valves and aorta.

Medicines

Beta blockers are medicines that help your heart beat slower and with less force. These medicines may help relieve strain on your aorta and slow the rate of aortic dilation.

Some people have side effects from beta blockers, such as tiredness and nausea (feeling sick to your stomach). If side effects occur, your doctor may prescribe a calcium channel blocker or ACE inhibitor instead of a beta blocker. Both medicines help relieve stress on the aorta.

Studies suggest that blocking a protein called TGF-beta may help prevent some of the effects of Marfan syndrome. Research shows that the medicine losartan may block the protein in other conditions.

The National Heart, Lung, and Blood Institute currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation.

Surgery

If your aorta stretches, it's more likely to tear (a condition called aortic dissection). To prevent this, your doctor may recommend surgery to repair or replace part of your aorta.

Surgery may involve:

  • A composite valve graft. For this surgery, part of the aorta and the aortic valve are removed. The aorta is replaced with a man-made tube called a graft. A man-made valve replaces the original valve.
  • Aortic valve-sparing surgery. If your aortic valve is working well, your doctor may recommend valve-sparing surgery. For this surgery, your doctor replaces the enlarged part of your aorta with a graft. Your aortic valve is left in place.

After aortic surgery, you may need medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe medicines called anticoagulants, or "blood thinners."

Blood thinners help prevent blood clots from forming on your man-made aortic valve. You'll need to take these medicines for the rest of your life. If you've had valve-sparing surgery, you'll only need to take blood thinners for a short time, as your doctor prescribes.

If you've had a composite valve graft, you're at increased risk for endocarditis (EN-do-kar-DI-tis). This is an infection of the inner lining of your heart chambers and valves. Your doctor may recommend that you take antibiotics before certain medical or dental procedures that increase your risk of endocarditis.

Your doctor also may advise you to continue taking beta blockers or other medicines after either type of aortic surgery.

After surgery, you may have routine cardiac magnetic resonance imaging (MRI) or cardiac computed tomography (CT) scans to check your aorta.

Cardiac MRI is a painless test that uses radio waves and magnets to created detailed pictures of your organs and tissues. Cardiac CT is a painless test that uses an x-ray machine to take clear, detailed pictures of your heart.

Bone and Joint Treatments

If you have scoliosis (a curved spine), your doctor may suggest a brace or other device to prevent the condition from getting worse. Severe cases of scoliosis may require surgery.

Some people who have Marfan syndrome need surgery 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.

Eye Treatments

Marfan syndrome can lead to many eye problems, such as a dislocated lens, nearsightedness, early glaucoma (high pressure in the fluid in the eyes), and cataracts (clouding of an eye's lens).

Glasses or contact lenses can help with some of these problems. Sometimes surgery is needed.

Nervous System Treatments

Marfan syndrome can lead to dural ectasia. In this condition, a substance called the dura (which covers the fluid around your brain and spinal cord) stretches and grows weak. This can cause the bones of the spine to wear away. Dural ectasia usually is treated with pain medicines.

Lung Treatments

Marfan syndrome may cause pneumothorax, or collapsed lung. In this condition, air or gas builds up in the space between the lungs and the chest wall.

If the condition is minor, it may go away on its own. However, you may need to have a tube placed through your skin and chest wall to remove the air. Sometimes surgery is needed.




Living With Marfan Syndrome

Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have Marfan syndrome to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.

If you have Marfan syndrome, talk with your doctor about ongoing care and what types of physical activity are safe for you. If you're thinking about becoming pregnant, discuss the possible risks with your doctor.

Ongoing Care

If you have Marfan syndrome, you'll need regular checkups with the doctor who is coordinating your care and other medical experts, including:

  • Regular visits with your cardiologist (heart specialist) to check for problems with your heart valves and aorta. (The aorta is the main blood vessel that supplies oxygen-rich blood to the body.) You'll have routine echocardiograms to check your heart.
  • Annual checkups with an orthopedist (bone specialist) to look for changes in your spine and breastbone.
  • Regular eye exams with an ophthalmologist (eye specialist) to find and treat eye problems early.

Let your doctors and dentists know if you've had a composite valve graft. If you've had this type of surgery, you're at increased risk for endocarditis. This is an infection of the inner lining of your heart chambers and valves.

Your health care providers, including dentists, may give you antibiotics before certain medical or dental procedures that could raise your risk of endocarditis.

Take all of your medicines as your doctor prescribes.

Emergencies

If you have Marfan syndrome, you're at risk for aortic dissection. This is a condition in which the aorta tears and leaks blood. Aortic dissection is a life-threatening condition.

The main symptom of aortic dissection is severe pain in either the front or back of your chest or abdomen. The pain can travel upward or downward. If you have symptoms of aortic dissection, call 9–1–1.

To prepare for an emergency, you should:

  • 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. You can order an emergency alert card from the National Marfan Foundation.
  • Tell the people you see regularly—such as family, friends, or coworkers—that you're at risk for aortic dissection. Describe the symptoms of this condition, and tell them to call 9–1–1 if you have these symptoms.

Emotional Issues and Support

Living with Marfan syndrome may cause fear, anxiety, depression, and stress. Talk about how you feel with your health care team. Talking to a professional counselor also can help. If you're very depressed, your doctor may recommend medicines or other treatments that can improve your quality of life.

Joining a patient support group may help you adjust to living with Marfan syndrome. You can see how other people who have the condition have coped with it. Talk with your doctor about local support groups or check with an area medical center.

Support from family and friends also can help relieve stress and anxiety. Let your loved ones know how you feel and what they can do to help you.

Smoking

If you smoke, quit. People who have Marfan syndrome are at increased risk for lung problems. Smoking raises the risk even more. Talk with your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.

For more information about quitting smoking, go to the Health Topics Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart."

Physical Activity

Physical activity can help you feel better, manage your weight, and protect your bones. Talk with your doctor about what types of physical activity are safe for you. Some physical activities can increase your blood pressure. This puts extra strain on your heart.

You'll likely need to avoid strenuous activities, such as weightlifting, skiing, and football. You also may need to avoid sports that involve physical contact with other players or a hard ball. Examples of these sports are baseball, soccer, and ice hockey.

Your doctor may suggest low- and moderate-impact activities, such as swimming, golf, brisk walking, hiking, and tennis.

If you have a child who has Marfan syndrome, talk with his or her doctor about whether your child can take part in physical education at school. Work with your child's doctor and school staff to find out what activities are safe for your child.

The type and level of activity recommended will depend on the severity of your child's Marfan syndrome.

Pregnancy

Many pregnant women who have Marfan syndrome have safe and normal pregnancies and deliveries. However, pregnant women who have Marfan syndrome have some added risks. The most serious risk is aortic dissection. This risk increases during pregnancy due to extra strain on the heart.

If you're thinking about getting pregnant, talk with an obstetrician (a doctor who cares for pregnant women) who's familiar with your condition. You also may want to talk with a doctor who's an expert in high-risk pregnancies.

Another risk is passing the gene for Marfan syndrome on to your child. If you have Marfan syndrome, you have a 50 percent chance of passing the condition to each child you have. Even if you pass the gene on, your child's symptoms may be different than your symptoms.

You may want to consult a geneticist, a cardiologist, and an obstetrician before getting pregnant. These doctors can tell you the risks to you and your baby and explain your options.




Clinical Trials

The National Heart, Lung, and Blood Institute (NHLBI) is strongly committed to supporting research aimed at preventing and treating heart, lung, and blood diseases and conditions and sleep disorders.

NHLBI-supported research has led to many advances in medical knowledge and care. For example, this research has uncovered some of the causes of various diseases and conditions, as well as ways to prevent, diagnose, or treat them.

The NHLBI continues to support research aimed at learning more about various diseases and conditions, including Marfan syndrome. For example, the NHLBI currently is sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study's goal is to find out which medicine, if either, is best at slowing the rate of aortic dilation.

Ongoing research on Marfan syndrome often depends on the willingness of volunteers to take part in clinical trials. Clinical trials test new ways to prevent, diagnose, or treat various diseases and conditions.

For example, new treatments for a disease or condition (such as medicines, medical devices, surgeries, or procedures) are tested in volunteers who have the illness. Testing shows whether a treatment is safe and effective in humans before it is made available for widespread use.

By taking part in a clinical trial, you can gain access to new treatments before they're widely available. You also will have the support of a team of health care providers, who will likely monitor your health closely. Even if you don't directly benefit from the results of a clinical trial, the information gathered can help others and add to scientific knowledge.

If you volunteer for a clinical trial, the research will be explained to you in detail. You'll learn about treatments and tests you may receive, and the benefits and risks they may pose. You'll also be given a chance to ask questions about the research. This process is called informed consent.

If you agree to take part in the trial, you'll be asked to sign an informed consent form. This form is not a contract. You have the right to withdraw from a study at any time, for any reason. Also, you have the right to learn about new risks or findings that emerge during the trial.

For more information about clinical trials related to Marfan syndrome, talk with your doctor. You also can visit the following Web sites to learn more about clinical research and to search for clinical trials:

For more information about clinical trials for children, visit the NHLBI's Children and Clinical Studies Web page.




Links to Other Information About Marfan Syndrome

Non-NHLBI Resources

Clinical Trials

 
October 01, 2010 Last Updated Icon

The NHLBI updates Health Topics articles on a biennial cycle based on a thorough review of research findings and new literature. The articles also are updated as needed if important new research is published. The date on each Health Topics article reflects when the content was originally posted or last revised.