What Is Marfan Syndrome?
Marfan syndrome is a disorder of connective tissue.
Connective tissue holds all the parts of your body together and helps control
growth. Connective tissue gets some of its strength from a protein called
fibrillin 1. Fibrillin 1 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, and the growth and development of the body are
affected.
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.
Valves in the heart may not close properly and may
let blood leak backward. The aortathe large artery that carries
blood away from the heart out to the bodymay stretch and enlarge,
and it can burst. The aorta also can 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 and
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 (sko-le-O-sis),
lordosis (lor-DO-sis), or kyphosis (ki-FO-sis), can occur.
The Eyes
The most common vision problem in people with Marfan
syndrome is nearsightedness (myopia). Nearsightedness 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 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.
More details about these characteristics and
complications of Marfan syndrome are in the Signs and Symptoms section.
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 4050. 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.
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
persons 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 birds 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:
- Scoliosisa side-to-side curvature
- Lordosisan inward curvature of the spine in
the lower back, just above the buttocks
- Kyphosisan 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
(ek-TA-ze-a), 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 aortathe large artery that carries blood away from the heart to
the bodymay 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-RITH-me-as). 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
MVP is a problem with the hearts 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 directionfrom the left atrium into
the left ventricleand 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.
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 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 (AN-u-rism). 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 (a-STIG-ma-tizm), 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 (noo-mo-THOR-aks) 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
persons 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 (tranz-ih-sof-uh-JEE-ul)
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 (EN-do-kar-DI-tis).
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
patients 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 buildor with a family
history of Marfan syndromemay 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 610 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.
Key Points
- Marfan syndrome is a connective tissue disorder.
Connective tissue is the strong, elastic tissue that holds the parts of the
body together and supports body structures.
- In Marfan syndrome, the connective tissue is
weakened due to a defect in an important protein called fibrillin 1. The
defective fibrillin 1 also affects the growth and development of many of the
organs of the body.
- Marfan syndrome is usually inherited (passed from
parent to child). It takes only one copy of the gene that causes Marfan
syndrome to be born with the condition. Sometimes a chance gene mutation occurs
that causes Marfan syndrome.
- People who have Marfan syndrome are usually tall
with a slender, loose-jointed body. However, it should be noted that short,
heavy people also can have Marfan syndrome.
- The signs and symptoms of Marfan syndrome vary.
Some people have only mild signs and symptoms. Others have severe signs and
symptoms with serious complications.
- Doctors diagnose Marfan syndrome according to
guidelines called the Ghent criteria, which are based on signs and symptoms
that are common in people with this disorder. The Ghent criteria are based on a
detailed personal and family medical history, physical exam, and results of
tests of the heart and eyes.
- Complications from Marfan syndrome can include
problems with the heart and blood vessels, including leaky valves and an
enlarged aorta. Chest wall deformities and a curved spine can occur. The eyes,
lungs, and skin also can be affected.
- A serious complication of Marfan syndrome is
aortic dissection. In aortic dissection, a tear occurs in the wall of the
aorta, and the layers of the wall separate as blood leaks into the wall of the
aorta. This can lead to blockage of blood flow through the aorta. Aortic
dissection is a life-threatening medical emergency, but it can be treated if
caught early.
- Treatment for people with Marfan syndrome may
include medicines; surgery; lifestyle changes related to physical activity;
regular checkups of the heart, eyes, and skeleton; and/or the use of back
braces or other prosthetic devices.
- Marfan syndrome is a lifelong condition that
cannot be cured. However, early diagnosis and treatment, combined with
lifestyle changes, can limit and prevent complications, lengthen life, and
improve the quality of life.
Links to More Information About Marfan
Syndrome
NHLBI
Non-NHLBI Online Resources
Clinical Trials
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