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 a number of complications. In some cases, 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 on to each of your children. In about 1 in 4 cases, Marfan syndrome occurs because of a spontaneous mutation. Thus, the affected person is the first in their 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).
• 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 weaken and stretch. This condition is called aortic dilation or aortic aneurysm (AN-u-rism).

If the aorta weakens and stretches, it may tear or burst and leak blood. This condition is called aortic dissection. This serious complication can lead to severe heart problems or even death.

Marfan syndrome has no cure, but treatments can help delay or prevent complications of the condition. Treatments include medicines, surgery, and other therapies. Limits or changes to certain activities 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.

New 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.

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 the altered gene from a parent. If you have the disorder, each of your children has a 50 percent chance of having the altered gene.

In some cases, 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 chance 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, each of your children has a 50 percent chance of having the altered gene that causes the condition.

Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, 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.

Complications of the condition 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 a number of 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.
• 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 weaken and stretch. This condition is called aortic dilation or aortic aneurysm.

If the aorta weakens and stretches, it may tear and leak blood. This condition is called aortic dissection. This serious complication 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 (stomach). The pain can travel upward or downward. If you have symptoms of an 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), 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.

Eye Complications

Marfan syndrome can cause a number of 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 weaken and stretch.

This condition, called dural ectasia, 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 symptom of a collapsed lung is sudden pain in one side of the lung and shortness of breath.

Marfan syndrome also can be linked to sleep apnea. This may be due to the shape of the face, oral cavity, or teeth of the person who has Marfan syndrome. 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.

Conditions such as scoliosis (a curved spine) and pectus excavatum 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).

How Is Marfan Syndrome Diagnosed?

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

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

If you're diagnosed with Marfan syndrome, all of your first-degree relatives 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 other 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 members. 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

To learn more about your health, 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) 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 vessels. This test also shows how well your heart's chambers and valves are working.

For people who have Marfan syndrome, echocardiography mainly is used to check the heart's valves and aorta (the main artery that carries oxygen-rich blood to your body).

Magnetic Resonance Imaging and Computed Tomography Scans

Magnetic resonance imaging (MRI) is a safe 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 to 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 in people who have Marfan syndrome. In this condition, the aorta—the main artery that carries oxygen-rich blood to your body—stretches and weakens.

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.

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.

Lab 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 is currently sponsoring a study comparing losartan to a beta blocker in children and adults who have Marfan syndrome. The study aims to find out which medicine, if either, is best at slowing the rate of aortic enlargement.

Surgery

If your aorta stretches, it's more likely to tear (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 certain medicines or followup tests. For example, after a composite valve graft, your doctor will prescribe anticoagulants, or "blood thinners."

Blood thinners help prevent blood clots from forming on your man-made aortic valve. You will 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)—an infection of the valve. Your doctor may recommend that you take antibiotics before certain medical or dental procedures that may raise your risk for the heart infection.

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 safe 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. More 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 several 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. In some cases, 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) weakens and stretches. 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 required.

Living With Marfan Syndrome

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

Ongoing Care

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. You will 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 surgery, you’re at increased risk for endocarditis—a heart infection.

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

Take all 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. (The aorta is the main blood vessel that supplies oxygen-rich blood to the body.) 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 (stomach). The pain can travel upward or downward. If you have symptoms of an 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 Support

Having Marfan syndrome can be stressful. However, you can do things to lower your stress and anxiety.

Ask your doctor about support groups in your area for people who have Marfan syndrome. If you feel sad or depressed, seek help from a mental health professional. Your family and friends also can give you support.

Smoking

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

Physical Activity

Physical activity can help you feel better, manage your weight, and protect your bones. Talk to 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 will 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 some low- and moderate-impact activities, such as swimming, golf, brisk walking, hiking, and tennis.

If you have a child who has Marfan syndrome, talk to his or her doctor about whether your child can participate 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 your how severe your child's Marfan syndrome is.

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 to an obstetrician (a doctor who cares for pregnant women) who's familiar with your condition. You also may want to talk to 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 on 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 explain the risks to you and your baby and what your options are.

Key Points

• 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 various parts of the body, it can cause a number of complications. In some cases, the complications are life threatening.
• 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 the altered gene from a parent. In some cases, Marfan syndrome isn’t inherited.
• Marfan syndrome affects about 1 out of every 5,000 people in the United States. Men, women, children, and people of all races can have the condition. If you have Marfan syndrome, each of your children has a 50 percent chance of having the altered gene that causes the condition.
• 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. Complications of the condition also vary, depending on how the condition affects your body.
• Your doctor will diagnose Marfan syndrome based on your medical and family histories, a physical exam, and the results of tests. He or she also will consult a set of guidelines, called Ghent criteria, used to diagnose Marfan syndrome.
• Marfan syndrome has no cure. However, treatments can help delay or prevent complications of the condition (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.
• New 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 to your doctor about ongoing care and what types of physical activity are safe for you. If you’re thinking about becoming pregnant, you should discuss the possible risks with your doctor.
• If you smoke, quit. People who have Marfan syndrome are at increased risk for lung problems. Smoking increases the risk even more. Talk to your doctor about programs and products that can help you quit smoking. Also, try to avoid secondhand smoke.

Links to Other Information About Marfan Syndrome

NHLBI Resources

• NHLBI-Related Public Interest Organizations

Non-NHLBI Resources

• Marfan Syndrome (MedlinePlus)

Clinical Trials

• Current Research (ClinicalTrials.gov)
• NHLBI Pediatric Clinical Trials
• Pediatric Heart Network