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Marfan syndrome





A rare, inherited disorder of connective tissue – tissue holds all the parts of the body together and helps control growth. Connective tissue gets some of its strength from a protein called fibrillin 1, which also plays an important role in controlling the growth and development of the body. In Marfan syndrome, the body produces fibrillin 1 that does not work properly. As a result, the connective tissue is not as strong as it should be, there are abnormalities of the skeleton, heart, and eyes, and the growth and development of the body are affected. Marfan syndrome affects about 2 in every 100,000 people. See also connective tissue disorders.


Effects of Marfan syndrome on the body


The heart and blood vessels

Most people who have Marfan syndrome have problems with their heart and blood vessels because of weak connective tissue.

Heart valves may not close properly and may let blood leak backward. The aorta – the large artery that carries blood away from the heart out to the body – may stretch, enlarge, and even burst. The aorta may also develop a tear in its inner wall. This tear can expand and block blood flow through the aorta. This is called aortic dissection.


The bones, cartilage, and ligaments

People with Marfan syndrome tend to have tall, slender bodies with arms and legs disproportionately long compared to the trunk. They also usually have long fingers and toes. The ligaments and joints are typically loose. Because of rib overgrowth, the chest may protrude or be indented. Abnormal curving of the spine, called scoliosis, lordosis, or kyphosis, can occur.


The eyes

The most common vision problem in people with Marfan syndrome is myopia (near-sightedness). Myopia is sharp vision for things that are close and blurred vision for things that are farther away. Dislocation of the lens of the eye is a hallmark of Marfan syndrome that occurs in very few other conditions. Cataracts, or glaucoma at an early age, or detached retinas, also occur in people with Marfan syndrome.


The lungs

In Marfan syndrome, the air sacs (alveoli) in the lungs may be unusually large. In addition, the chest may be abnormally shaped. For these reasons, people with Marfan syndrome may have breathing problems, such as collapsed lungs (spontaneous pneumothorax) and early emphysema.


The skin

Stretch marks, not due to weight gain or loss, commonly occur on the skin of people with Marfan syndrome.


Outlook

Marfan syndrome is a lifelong disorder with no known cure. As recently as the 1970s, most people with Marfan syndrome did not survive beyond age 40–50. Some infants and children died from complications due to the condition. In most cases, death was due to heart and blood vessel problems.

Today, because of early diagnosis and better medical and surgical treatments, people with Marfan syndrome can live longer and healthier lives, with fewer and less severe complications. However, aging with Marfan syndrome poses new concerns as this chronic and progressive disorder advances. In addition, those who are not diagnosed or treated are still at risk of an early sudden death due to blood vessel problems.





What causes Marfan syndrome?

Marfan syndrome is caused by a defect in the gene that controls the structure of a protein called fibrillin 1. Fibrillin 1 is an important part of connective tissue. If you have the defective gene, your body produces fibrillin 1 that does not function as it should. As a result, your connective tissue is not as strong as it should be, and it weakens over time. Fibrillin 1 also plays a role in the growth and development of many of the organs of the body. Defective fibrillin 1 contributes to the tall, thin body type seen in people with Marfan syndrome, as well as other Marfan signs and symptoms.

About 3 out of 4 people with Marfan syndrome inherit the defective gene from a parent. In about 1 out of every 4 people with Marfan syndrome, the gene abnormality occurs due to a chance (spontaneous) mutation of the gene.


Who is at risk for Marfan syndrome?

Marfan syndrome is a hereditary disorder passed from parent to child. Every person has two copies of every gene in the body (except some genes related to gender). One copy of each gene pair is inherited from each parent. It only takes one copy of the defective gene, inherited from one parent, for a person to have Marfan syndrome.

If one parent of a couple has Marfan syndrome, each of their children has a 50 percent chance of inheriting the Marfan gene.

If both parents have Marfan syndrome, each of their children has a 1 out of 4 chance of inheriting two normal copies of the gene, a 2 out of 4 chance of inheriting one copy of the Marfan gene, and a 1 out of 4 chance of inheriting two copies of the Marfan gene. Pregnancies in which the fetus inherits two copies of the Marfan gene are rare. Infants born with two copies of the Marfan gene are severely affected and usually do not survive beyond infancy.

inheritance of Marfan syndrome


What are the signs and symptoms of Marfan syndrome?

The signs and symptoms of Marfan syndrome vary from one person to another, even within the same family. Some people have mild signs and symptoms, while others may have severe problems and discomfort. Signs and symptoms occur in many parts of the body, including:
  • The bones and ligaments
  • The heart and blood vessels
  • The eyes
  • The lungs
  • The skin

Appearance and body build

Some of the major signs of Marfan syndrome are the common physical features seen in people with the condition. People with Marfan syndrome often have:
  • A tall, slender body build. They may be very tall or taller than other family members who do not have the condition. However, it should be noted that short, heavy people also can have Marfan syndrome.
  • Long arms, legs, fingers, and toes. A person's arm span (the distance from the fingertips of one hand to the fingertips of the other with the arms stretched out from the sides) may be greater than his or her height.
  • A long and narrow face.
  • A highly arched roof of the mouth with crowded teeth.
  • A receding lower jaw, causing an overbite.
  • A protruding or sunken chest.
  • A curved spine.
  • Flat feet that are rotated inward (some people, however, have exaggerated arches).

Bones, cartilage, and ligaments

The bones of the limbs, hands, and feet often grow too long in people with Marfan syndrome. This typically leads to a tall, thin body with disproportionately long arms, fingers, legs, and toes. People with Marfan syndrome have loose, relaxed ligaments and are usually loose jointed.

Chest abnormalities may occur due to an overgrowth of the ribs. There are two types of chest abnormalities:
  • Pigeon breast, also called pectus carinatum. The chest protrudes outward like a bird's chest. This can affect heart and lung function.

  • Funnel chest, also called pectus excavatum. The chest is sunken or indented, reducing the space between the breastbone and the backbone. As a result, the heart and lungs are displaced. Heart and lung function may be affected, leading to breathing and endurance problems.
Curvature of the spine may occur. It usually develops during childhood, often gets worse during the teenage growth spurt, and may require surgical treatment. The three main types of abnormal spine curvature are:
  • Scoliosis – a side-to-side curvature
  • Lordosis – an inward curvature of the spine in the lower back, just above the buttocks
  • Kyphosis – an outward curvature of the spine in the upper back (hunchback)
Curvature of the spine can cause back pain, posture problems, and deformity. Scoliosis can sometimes reduce lung function.

Another problem that can occur is dural ectasia, which is the stretching of the membrane surrounding the brain and spinal cord. Dural ectasia can wear down the bones of the spine over time. Symptoms may include:
  • Pain in the lowest part of the back
  • Pain in the abdomen
  • Pain, numbness, or weakness of the legs
Dural ectasia is a hallmark of Marfan syndrome that is very rare in the general population.


Heart and blood vessels

People who have Marfan syndrome often have problems with the heart and blood vessels. The valves of the heart may not work properly and may permit some blood flow to be reversed, causing the heart to do extra work. The aorta – the large artery that carries blood away from the heart to the body – may stretch and enlarge. These problems can cause signs and symptoms, such as:
  • A heart murmur. This can be the result of valves not functioning properly or other heart problems.

  • Sudden chest pain. This can be a symptom of aortic dissection, a life-threatening complication that can occur due to weakened aorta walls. The pain may occur in the front or in the back, usually in the midline of the body. The location of the pain may change as the tear in the aorta grows. In some cases, a dissection does not cause dramatic pain.

  • Abnormal heart rhythms called arrhythmias. A person with Marfan syndrome may develop an arrhythmia as a result of problems with the heart valves or due to cardiomyopathy or congestive heart failure.

  • Shortness of breath and fatigue (tiredness). These can be symptoms of heart failure due to an overworked heart.
Two of the heart and blood vessel complications that can occur in people with Marfan syndrome are mitral valve prolapse (MVP) and enlargement of the aorta.


Mitral valve prolapse

mitral valve prolapse
Figure A shows the normal mitral valve separating the left atrium from the left ventricle. Figure B shows the heart with mitral valve prolapse. Figure C shows the detail of mitral valve prolapse. Figure D shows a mitral valve that allows blood to flow backward into the left atrium.
MVP is a problem with the heart's mitral valve. The mitral valve controls the flow of blood through two of the chambers in the heart, the left atrium and the left ventricle. The flaps of the valve are designed to allow blood to flow in one direction – from the left atrium into the left ventricle – and to prevent blood from flowing the other way.

In MVP, the mitral valve does not work correctly. The valve flaps are large and floppy. They may overlap or not close completely. One or both flaps may flutter or swing back into the atrium.

The abnormal mitral valve can allow blood to flow backward through the valve in the wrong direction. This is called mitral regurgitation. When this happens, the heart has to work harder to make up for the backward flow of blood. Over time, the heart can become overworked, leading to heart failure.


MVP occurs in about 3 out of every 4 people with Marfan syndrome. It also occurs in people who do not have Marfan syndrome. In many people with MVP, little or no blood leaks back through the valve, there are no symptoms, and no treatment is needed. In some people, blood does leak back through the valve, and these people may have symptoms and require treatment.


Enlargement of the aorta (Aortic dilation)

The aorta is the large artery that carries oxygen-rich blood away from your heart out to the rest of the body. When weak connective tissue causes the walls of the aorta to weaken, the aorta widens and stretches. Most often, the enlargement begins where the aorta connects with the left ventricle of the heart, just above the aortic valve. This part of the aorta is called the aortic root.

Enlargement of the aorta can lead to several serious complications:
  • Aortic root dilation. The aorta can widen and bulge where it attaches to the heart. This happens due to continued weakening of the wall of the aorta. Aortic root dilation may not cause any symptoms until it becomes quite large. If symptoms occur, they may include pain in the chest, upper back, neck, and jaw; coughing and hoarseness; and trouble swallowing. As part of this dilation, one section may enlarge and bulge out. This is called an aortic aneurysm. The aneurysm can rupture, causing massive internal bleeding, which is a life-threatening medical emergency.

  • Aortic regurgitation. The aortic valve sits between the left ventricle and the aorta and allows blood to flow one way, from the ventricle to the aorta. In Marfan syndrome, as the aorta widens, the aortic valve also is stretched, and the valve flaps cannot close properly. This allows blood to leak the wrong way, from the aorta back into the left ventricle (regurgitation). As a result, the heart has to work harder to pump blood out to the body. The heart can become overworked, leading to heart failure. People with aortic regurgitation may have shortness of breath and exercise intolerance.

  • Aortic dissection. This is a tear that occurs in the weakened layers of the inner wall of the aorta. The tear allows blood to get under the inner layer of the wall. As a result, the aorta tears further. An aortic dissection is a life-threatening emergency. Signs and symptoms of an aortic dissection include abrupt onset of chest pain, which may range from mild to severe. There may be pain in the back or the abdomen, or both. The person may sweat, vomit, faint, and have a weak pulse.

Eyes and vision

Nearsightedness (myopia) is the most common eye problem in people with Marfan syndrome. It can range from mild to severe. People with Marfan syndrome often have astigmatism, which causes visual distortion and blurred vision.

Dislocation of the lens of the eye (ectopia lentis) is another common complication of Marfan syndrome. It is considered a hallmark of Marfan syndrome because it occurs in very few other conditions. It may affect one or both eyes, and the lens may be higher or lower than normal or shifted off to the side. Vision in the affected eye(s) may be severely affected.

Other, less common eye problems in Marfan syndrome include detached retina, cataracts, and glaucoma. A detached retina occurs when there are holes or tears in the inner lining of the eye. A cataract is a clouding of the lens. Glaucoma occurs as a result of high pressure in the eye. People with Marfan syndrome tend to get cataracts and glaucoma at a younger age than people who do not have Marfan syndrome.


Lungs

In Marfan syndrome, the air sacs in the lungs may be larger than normal. This can cause breathing problems. People with Marfan syndrome are at an increased risk of developing emphysema or chronic obstructive pulmonary disease (COPD), a serious lung disease.

Sudden collapse of the lung, called spontaneous pneumothorax can occur in people with Marfan syndrome. About 1 in every 20 people with Marfan syndrome develops this problem. Collapsed lung can happen after only a slight blow to the chest, or even while at rest without a known cause. Collapsed lung usually causes sudden shortness of breath and requires immediate medical attention.

Sleep apnea is a problem that is often associated in the general population with being overweight or obese. But thin people with Marfan syndrome can also suffer from it. This may be due to looseness of the connective tissue in the airways.


Skin

Stretch marks on the skin occur in about 2 out of every 3 people with Marfan syndrome. The stretch marks are usually on the lower back, buttocks, shoulders, breasts, thighs, and abdomen. They differ from stretch marks in the general population because, in people with Marfan syndrome, they occur without excessive weight gain or loss. The marks usually appear around the time of puberty, but may occur in childhood. They do not require treatment.


How is Marfan syndrome diagnosed?

Marfan syndrome is diagnosed based on three main factors:
  • The presence of Marfan signs and symptoms
  • A detailed family and medical history
  • A complete physical exam and some tests

Diagnostic criteria

The diagnosis of Marfan syndrome is based on a person's family history and the presence of certain findings on physical exam. Lab and genetic tests can help, but by themselves are not enough to diagnose Marfan syndrome.

Doctors use a set of guidelines called the Ghent criteria to establish the diagnosis of Marfan syndrome. The Ghent criteria specify combinations of family history and physical findings that need to be present in order to diagnose Marfan syndrome. The criteria were updated in 1996 and named for the city in which the expert panel that decided the criteria met. The previous guidelines were called the Berlin criteria.

It is important to note that a person may have some of the features of Marfan syndrome, but not enough to actually be diagnosed with the disorder. In this situation, it is important for the person to be treated for the signs and symptoms he or she does have.

In some cases, Marfan syndrome may not be diagnosed until early adulthood, when the signs and symptoms become more obvious. Infants and children may be diagnosed if the signs and symptoms are obvious or if they are being treated for some other condition. Sometimes Marfan syndrome is identified in children or young adults after a family member has been diagnosed.


Specialists involved

A family doctor or pediatrician may observe certain signs and symptoms that suggest Marfan syndrome and refer a person to a specialist for diagnosis. Because Marfan syndrome affects so many body systems, several specialists may be involved, including:
  • Geneticist. This doctor specializes in genetic disorders. A geneticist will evaluate the person with Marfan syndrome and other family members. He or she will help coordinate visits with other specialists, collect the findings, and apply them to the diagnostic criteria. A geneticist can help answer questions about the cause of Marfan syndrome, whether other family members may have Marfan syndrome, and the chances of passing along the condition to an unborn child.
  • Cardiologist. A cardiologist specializes in diagnosis and treatment of heart disease.
  • Cardiothoracic surgeon. This type of doctor specializes in surgery of the heart and lungs.
  • Orthopedist. An orthopedist specializes in diagnosis and treatment of deformities and injuries to bones.
  • Ophthalmologist. An ophthalmologist specializes in disorders of the eyes.

Diagnostic tests

Doctors may use a combination of tests to diagnose Marfan syndrome. In addition, some tests also may be used for monitoring patients and detecting complications. Tests may include:
  • Echocardiogram. This test uses sound waves to create a moving picture of your heart. Echocardiogram provides information about the size and shape of your heart and how well your heart chambers and valves are functioning. The test also can identify areas of poor blood flow to the heart, areas of heart muscle that are not contracting normally, and previous injury to the heart muscle caused by poor blood flow.
    There are several different types of echocardiograms, including a stress echocardiogram. During this test, an echocardiogram is done both before and after your heart is stressed either by having you exercise or by injecting a medicine into your bloodstream that makes your heart beat faster and work harder. A stress echocardiogram is usually done to find out if you have decreased blood flow to your heart (coronary artery disease).

  • Transesophageal echocardiography (TEE). TEE is used to look for aortic dissection and aortic aneurysm. Like echocardiogram, this test uses sound waves, but it shows a detailed view from inside the body using a small flexible tube placed in the esophagus, which is behind the heart.

  • Computed tomography (CT) scan. This test uses dye that can be seen on X-ray. It produces computer-generated images that can show aortic dissection and aneurysm.

  • EKG (electrocardiogram). An EKG measures the rate and regularity of the heartbeat. It can help find heart rhythm problems.

  • Magnetic resonance imaging (MRI). This test uses magnets and radio waves to create images of the inside of the body. MRI can show aortic dissection and aneurysm, and it can be used on the lower back to detect dural ectasia.

  • Slit-lamp exam. This is an eye test. The doctor uses a microscope with an adjustable light source to check the eyes for lens dislocation, nearsightedness, cataracts, or a detached retina. In Marfan syndrome, it is important for the eye doctor to completely dilate the eye before conducting the test in order to get the most accurate results.

  • Genetic testing. Although the genetic defect that causes Marfan syndrome is known, there is no genetic test that can always diagnose the disorder without a person also meeting the diagnostic criteria. Because there are times when genetic testing may be helpful, testing should be discussed with a doctor who is familiar with Marfan syndrome.

How is Marfan syndrome treated?

Treatments are available for Marfan syndrome to limit and prevent complications, prevent death from heart-related complications, improve physical appearance, and limit disfigurement. There is new hope for treatments that will be directed at how fibrillin 1 controls the growth in the body. Currently, Marfan syndrome has no cure.


Treatment for heart and blood vessel problems

Treatment for problems with the heart and blood vessels may include medicines and surgery. To decide when treatment is needed, doctors should repeat diagnostic tests (such as an annual echocardiogram) periodically and look for changes in the heart and aorta. Lifestyle changes also can help to reduce strain and stress on the heart and blood vessels.


Medicines

A variety of medicines are used to treat heart and blood vessel problems in people with Marfan syndrome.


Beta blockers

Beta blockers are often used to:
  • Slow or prevent aortic enlargement
  • Stabilize aortic dissections that begin away from the heart so that immediate surgery is not required
  • Lower blood pressure
  • Help the heart beat less forcefully
  • Decrease stress on the aorta

Calcium channel blockers

Calcium channel blockers:
  • Relax blood vessels and lower blood pressure
  • May be used instead of beta blockers when a person has other conditions such as asthma, heart failure, or arrhythmia

Angiotensin-converting enzyme inhibitors

Also called ACE inhibitors, these medicines:
  • Relax blood vessels and lower blood pressure
  • Control or slow valve leakage (regurgitation)
  • May be prescribed for a person who cannot take beta blockers due to other conditions such as asthma, heart failure, or arrhythmia

Other medicines may include:
  • Anticoagulants, which are used to prevent clots after heart valve replacement surgery.
  • Antibiotics, which should be prescribed before dental work or invasive procedures. They help prevent bacteria that enter the bloodstream from causing an infection of the inner lining of the heart called endocarditis.

Surgery

Aortic valve surgery

Some people with Marfan syndrome need surgery to repair or replace the aorta or the aortic valve. Doctors may recommend surgery for several reasons, such as:
  • The diameter (width) of the aorta is enlarging rapidly (greater than 1 cm/year).
  • The diameter of the aorta has become significantly enlarged.
  • Other family members with Marfan syndrome have had aortic dissection or aortic aneurysm rupture.
  • There is evidence of aortic valve leakage (regurgitation).
Although any kind of surgery has risks, doctors have had more success with aortic repair and aortic valve replacement surgery when done on an elective (nonemergency) basis than on an emergency basis.

Patients with the criteria mentioned above may need surgery to repair or replace their aorta. Composite valve-graft aortic replacement surgery and aortic valve-sparing surgery are the two main types of surgery that surgeons use in patients with Marfan syndrome and problems with the aorta. Choices for aortic repair or replacement surgery each have advantages and disadvantages. These should be thoroughly discussed with the surgeon to determine which surgery is best suited to the individual.

Composite valve-graft aortic replacement surgery. Most often, doctors recommend composite valve-graft surgery to repair an enlarged aorta or to prevent aortic dissection and rupture. In this open-heart surgery, the aortic valve and part of the aorta are replaced. Surgeons remove the aneurysm (enlarged part of the aorta) and replace it with an artificial tube called a graft. An artificial (mechanical) valve replaces the native aortic valve. People who receive a mechanical aortic valve require anticoagulant medicine to prevent blood clots from forming on the mechanical valve.

Aortic valve-sparing surgery. Valve-sparing surgery is a newer and increasingly used approach for patients who have an enlarged aorta but an otherwise normal aortic valve. Similar to composite valve-graft surgery, valve-sparing surgery is an open-heart procedure. Most surgeons do not recommend valve-sparing surgery in emergency situations.

During valve-sparing surgery, the enlarged part of the aorta is removed. A tube, or graft, is tailored appropriately, and the patient's own, healthy aortic valve is sewn within the tube.

When compared to composite valve-graft surgery, advantages of this type of surgery include:
  • No need for anticoagulant medicine, because there is no mechanical valve
  • Less risk of endocarditis, an infection of the aortic valve

Mitral valve surgery

Surgery may be needed if a person with Marfan syndrome has mitral valve prolapse or if the valve is leaking (mitral regurgitation). The doctor may suggest valve repair procedures (valvuloplasty) or valve replacement.
  • Valvuloplasty is open-heart surgery to repair the damaged valve. Occasionally and in certain hospitals, the procedure can be accomplished with a minimally invasive approach. Though still an open-heart procedure performed with the aid of a heart-lung machine, the incisions are smaller and recovery time is accelerated.

  • Valve replacement is open-heart surgery. The defective valve is replaced with a mechanical valve or a valve from cow or pig tissue. When a mechanical valve is used, lifelong therapy with anticoagulant medicines is required to prevent clot formation.

Treatment for skeletal system problems

Doctors may recommend several options to treat problems of the skeletal system.


Brace or other prosthetic device

These devices may be used to stabilize the spine. They are often used in children with scoliosis if the curve is between 20 and 40 degrees. A brace helps keep the curvature from getting worse as a child grows, but surgery may still be necessary.


Surgery for scoliosis

If the curve in the spine is greater than 40 to 50 degrees, surgery may be needed. Doctors may suggest surgery if a person has severe, ongoing back pain or if lung function is being affected. In this surgery, the surgeon inserts metal rods that help straighten and fuse the spine in the correct position.


Surgery for chest wall (pectus) deformities

Sometimes people with Marfan syndrome need chest surgery to limit damage and disfigurement, to prevent heart and lung compression or impaired function, or to improve their appearance. Doctors usually wait to do this surgery until after mid-adolescence when the ribs stop growing. Surgery to treat "pigeon breast" flattens and straightens the deformed breastbone and ribs. Surgery to treat "funnel chest" raises and straightens the breastbone and ribs.


Treatment for eye problems

Several eye conditions that often occur in people with Marfan syndrome need treatment. These include nearsightedness (myopia), visual distortion (astigmatism), and dislocated lens (ectopia lentis).

The doctor may recommend:
  • Corrective devices, such as eyeglasses or special contact lenses. Most often, eye problems can be adequately controlled with eyeglasses alone.
  • Lens implant surgery, but only when the eye has grown to full size.

Living with Marfan syndrome

Early diagnosis and advances in medical care have greatly improved the quality and length of life for people with Marfan syndrome. Finding and treating problems early can prevent or delay complications and improve quality of life.


Ongoing health care needs

If you have Marfan syndrome, you should have regular checkups with specialists. These checkups include:
  • Regular visits with a cardiologist to check heart function and look for changes in the aorta and valves that may need treatment. The frequency of visits will depend on how severely the heart and aorta are affected and how quickly your condition is changing.
  • Annual checkups with an orthopedist to look for changes in your spine or breastbone that may need treatment.
  • Regular eye exams with an ophthalmologist to find and treat eye problems early.
  • Regular dental care and good dental hygiene are important to prevent complications such as endocarditis. Endocarditis is an infection in the heart that can develop when a person has abnormal heart valves. You should take antibiotics before dental work to reduce the risk of endocarditis.
If you have Marfan syndrome, your doctor may suggest that you:
  • Wear a medical alert ID.
  • Learn to recognize symptoms of chest, back, or abdominal pain that could be a sign of aortic dissection. If aortic dissection occurs, you need emergency medical care at a hospital as soon as possible. Be prepared for this possibility and have a personal emergency plan in place.

Emotional and psychological needs

Having Marfan syndrome can be emotionally stressful. You and your family may find it difficult to accept and adjust to the disorder. Fortunately, information and support are available.

Your doctors can give you accurate information about Marfan syndrome and how to take care of it. They can answer your questions about the disorder and its treatment. The National Marfan Foundation also offers extensive information.

Social support may be available from family members and friends, other people with Marfan syndrome and their family members, and support groups. Peer counseling and support are available through the National Marfan Foundation.

Genetic counseling or other professional counseling (for example, from a social worker or psychologist) may be useful.


Physical activity

Your doctor may recommend gentle, regular exercise. An exercise program can be tailored to your needs. In general, low-impact exercise can help improve physical strength and endurance, increase bone density, and lower blood pressure. But more strenuous activities may be dangerous, increasing the risk of damage to your aorta, eyes, and ligaments. The doctor can advise you about safe types of exercise, as well as activities to avoid, such as contact sports and competitive school sports.

People with Marfan syndrome often are tall and loose jointed. Young people with this type of body build may be encouraged to play basketball or other sports before they find out that they have Marfan syndrome. Testing of young people with this kind of body build – or with a family history of Marfan syndrome – may lead to early diagnosis and prevent complications.


Pregnancy in women with Marfan syndrome

Having Marfan syndrome increases the risk of serious complications during pregnancy because of the added stress on the heart. However, many pregnant women with Marfan syndrome have safe, normal deliveries.

If you are a woman with Marfan syndrome thinking about having a baby, talk to your doctor about the risks to you and your baby. For example:
  • Your baby will have a 50 percent chance of inheriting the gene for Marfan syndrome.
  • Pregnancy will put extra stress on your heart. Serious, even life-threatening problems such as rapid enlargement of the aorta or aortic dissection can happen. Your doctor can explain the risks and you should have a cardiac evaluation before you become pregnant.
  • Certain medicines you are taking could cause problems for the pregnancy.
Couples considering pregnancy may want to seek genetic counseling if either person has Marfan syndrome.

If you become pregnant, you may want to seek care from a specialist familiar with Marfan syndrome or an obstetrician who specializes in high-risk pregnancies if a Marfan specialist is not available. You should have an echocardiogram every 6–10 weeks throughout pregnancy. Your doctor may recommend bed rest if aortic enlargement or aortic valve leakage occurs.

Anticoagulant medicines such as heparin and Coumadin® (warfarin) are often used to reduce the risk of blood clots in women with Marfan syndrome. If you are taking blood-thinning medications and become pregnant, or are planning on becoming pregnant, your doctor may want to change your medicines. Coumadin® (warfarin), for example, has been associated with birth defects when taken during the first trimester.

Your doctor may prescribe beta blockers if you have moderate or severe aortic dilation. Beta blockers do not increase the risk of birth defects or harm your unborn baby.


Related category

   • HEALTH AND DISEASE

Source: U.S. National Heart, Lung and Blood Institute