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August 2012

Questions and Answers about

Marfan Syndrome

This booklet answers general questions about

Marfan syndrome. It describes the

characteristics of the disorder, the diagnostic

process, and ways to manage symptoms. If

you have additional questions after reading

this booklet, you may wish to discuss them

with your doctor.

What Is Marfan Syndrome?

What Are the Symptoms of Marfan

Syndrome?

What Causes Marfan Syndrome?

How Is Marfan Syndrome Diagnosed?

What Types of Doctors Treat Marfan

Syndrome?

What Treatment Options Are Available?

What Are Some of the Emotional and

Psychological Effects of Marfan

Syndrome?

What Research Is Being Conducted on

Marfan Syndrome?

Where Can People Find More

Information About Marfan Syndrome?

Acknowledgments

For Your Information

What Is Marfan Syndrome?

Marfan syndrome is a heritable condition that

affects the connective tissue. The primary

purpose of connective tissue is to hold the

body together and provide a framework for

growth and development. In Marfan syndrome,

the connective tissue is defective and does not

act as it should. Because connective tissue is

found throughout the body, Marfan syndrome

can affect many body systems, including the

skeleton, eyes, heart and blood vessels,

nervous system, skin, and lungs. Marfan

syndrome affects men, women, and children,

and has been found among people of all races

and ethnic backgrounds.

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Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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What Are the Symptoms of Marfan

Syndrome?

Marfan syndrome affects different people in

different ways. Some people have only mild

symptoms, while others are more severely

affected. In most cases, the symptoms

progress as the person ages. The body

systems most often affected by Marfan

syndrome are:

Skeleton. People with Marfan

syndrome are typically very tall,

slender, and loose-jointed. Because

Marfan syndrome affects the long

bones of the skeleton, a person's arms,

legs, fingers, and toes may be

disproportionately long in relation to the

rest of the body. A person with Marfan

syndrome often has a long, narrow

face, and the roof of the mouth may be

arched, causing the teeth to be

crowded. Other skeletal problems

include a sternum (breastbone) that is

either protruding or indented, curvature

of the spine (scoliosis), and flat feet.

Eyes. More than half of all people with

Marfan syndrome experience

dislocation of one or both lenses of the

eye. The lens may be slightly higher or

lower than normal, and may be shifted

off to one side. The dislocation may be

minimal, or it may be pronounced and

obvious. One serious complication that

may occur with this disorder is retinal

detachment. Many people with Marfan

syndrome are also nearsighted

(myopic), and some can develop early

glaucoma (high pressure within the

eye) or cataracts (the eye's lens loses

its clearness).

Heart and blood vessels

(cardiovascular system). Most

people with Marfan syndrome have

problems associated with the heart and

blood vessels. Because of faulty

connective tissue, the wall of the aorta

(the large artery that carries blood from

the heart to the rest of the body) may

be weakened and stretch, a process

called aortic dilatation. Aortic dilatation

increases the risk that the aorta will

tear (aortic dissection) or rupture,

causing serious heart problems or

sometimes sudden death. Sometimes,

defects in heart valves can also cause

problems. In some cases, certain

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valves may leak, creating a "heart

murmur," which a doctor can hear with

a stethoscope. Small leaks may not

result in any symptoms, but larger ones

may cause shortness of breath, fatigue,

and palpitations (a very fast or irregular

heart rate).

Nervous system. The brain and

spinal cord are surrounded by fluid

contained by a membrane called the

dura, which is composed of connective

tissue. As someone with Marfan

syndrome gets older, the dura often

weakens and stretches, then begins to

weigh on the vertebrae in the lower

spine and wear away the bone

surrounding the spinal cord. This is

called dural ectasia. These changes

may cause only mild discomfort; or they

may lead to radiated pain in the

abdomen; or to pain, numbness, or

weakness in the legs.

Skin. Many people with Marfan

syndrome develop stretch marks on

their skin, even without any weight

change. These stretch marks can

occur at any age and pose no health

risk. However, people with Marfan

syndrome are also at increased risk for

developing an abdominal or inguinal

hernia, in which a bulge develops that

contains part of the intestines.

Lungs. Although connective tissue

problems make the tiny air sacs within

the lungs less elastic, people with

Marfan syndrome generally do not

experience noticeable problems with

their lungs. If, however, these tiny air

sacs become stretched or swollen, the

risk of lung collapse may increase.

Rarely, people with Marfan syndrome

may have sleep-related breathing

disorders such as snoring, or sleep

apnea (which is characterized by brief

periods when breathing stops).

What Causes Marfan Syndrome?

Marfan syndrome is caused by a defect, or

mutation, in the gene that determines the

structure of fibrillin-1, a protein that is an

important part of connective tissue. A person

with Marfan syndrome is born with the

disorder, even though it may not be diagnosed

until later in life.

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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The defective gene that causes Marfan

syndrome can be inherited: The child of a

person who has Marfan syndrome has a 50

percent chance of inheriting the disease.

Sometimes a new gene defect occurs during

the formation of sperm or egg cells, making it

possible for two parents without the disease to

have a child with the disease. But this is rare.

Two unaffected parents have only a 1 in

10,000 chance of having a child with Marfan

syndrome. Possibly 25 percent of cases are

due to a spontaneous mutation at the time of

conception.

Although everyone with Marfan syndrome has

a defect in the same gene, different mutations

are found in different families, and not

everyone experiences the same characteristics

to the same degree. In other words, the

defective gene expresses itself in different

ways in different people. This phenomena is

known as variable expression. Scientists do

not yet understand why variable expression

occurs in people with Marfan syndrome.

How Is Marfan Syndrome

Diagnosed?

There is no specific laboratory test, such as a

blood test or skin biopsy, to diagnose Marfan

syndrome. The doctor and/or geneticist (a

doctor with special knowledge about inherited

diseases) relies on observation and a

complete medical history, including:

Information about any family members

who may have the disorder or who had

an early, unexplained, heart-related

death.

A thorough physical examination,

including an evaluation of the skeletal

frame for the ratio of arm/leg size to

trunk size.

An eye examination, including a "slit

lamp" evaluation.

Heart tests such as an echocardiogram

(a test that uses ultrasound waves to

examine the heart and aorta).

The doctor may diagnose Marfan syndrome if

the patient has a family history of the disease,

and if there are specific problems in at least

two of the body systems known to be affected.

For a patient with no family history of the

disease, at least three body systems must be

affected before a diagnosis is made. Moreover,

two of the systems must show clear signs that

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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are relatively specific for Marfan syndrome.

In some cases, a genetic analysis may be

useful in making a diagnosis of Marfan

syndrome, but such analyses are often time

consuming and may not provide any additional

helpful information. Family members of a

person diagnosed with Marfan syndrome

should not assume they are not affected if

there is no knowledge that the disorder existed

in previous generations of the family. After a

clinical diagnosis of a family member, a genetic

study might identify the specific mutation for

which a test can be performed to determine if

other family members are affected.

Recently, doctors discovered a connective

tissue disorder known as Loeys-Dietz

syndrome, which has several characteristics

that overlap with those of Marfan syndrome.

When making a diagnosis, it is important to

distinguish between the two disorders:

Loeys-Dietz is more likely to cause fatal aortic

aneurysms, and treatment for the two is

different. A diagnostic test for Loeys-Dietz

syndrome is available.

What Types of Doctors Treat Marfan

Syndrome?

Because a number of body systems may be

affected, a person with Marfan syndrome

should be cared for by several different types

of doctors. A general practitioner or

pediatrician may oversee routine health care

and refer the patient to specialists such as a

cardiologist (a doctor who specializes in heart

disorders), an orthopaedist (a doctor who

specializes in bones), or an ophthalmologist (a

doctor who specializes in eye disorders), as

needed. Some people with Marfan syndrome

also go to a geneticist.

What Treatment Options Are

Available?

There is no cure for Marfan syndrome. To

develop one, scientists may have to identify

and change the specific gene responsible for

the disorder before birth. However, a range of

treatment options can minimize and sometimes

prevent complications. The appropriate

specialists will develop an individualized

treatment program; the approach the doctors

use depends on which systems have been

affected.

Skeletal. Annual evaluations are

important to detect any changes in the

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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spine or sternum. This is particularly

important in times of rapid growth, such

as adolescence. A serious

malformation not only can be

disfiguring, but also can prevent the

heart and lungs from functioning

properly. In some cases, an

orthopaedic brace or surgery may be

recommended to limit damage and

disfigurement.

Eyes. Early, regular eye examinations

are essential for identifying and

correcting any vision problems

associated with Marfan syndrome. In

most cases, eyeglasses or contact

lenses can correct the problem,

although surgery may be necessary in

some cases.

Heart and blood vessels. Regular

checkups and echocardiograms help

the doctor evaluate the size of the

aorta and the way the heart is working.

The earlier a potential problem is

identified and treated, the lower the risk

of life-threatening complications. Those

with heart problems are encouraged to

wear a medical alert bracelet and to go

to the emergency room if they

experience chest, back, or abdominal

pain. Some heart-valve problems can

be managed with drugs such as

beta-blockers, which may help

decrease stress on the aorta. In other

cases, surgery to replace a valve or

repair the aorta may be necessary.

Surgery should be performed before the aorta

reaches a size that puts it at high risk for tear

or rupture. Because blood clots can form

around artificial heart valves, people who have

a valve replaced must take the blood-thinning

drug warfarin for the rest of their lives. They

must also take extreme care to prevent

endocarditis (inflammation of the lining of the

heart cavity and valves). Dentists should be

alerted to this risk; they are likely to

recommend that the patient be prescribed

protective medicines before they perform

dental work.

Because warfarin carries a risk of some

serious side effects, including excessive

bleeding, and because it is dangerous to

unborn babies, doctors are increasingly opting

for a newer aortic root replacement procedure

that enables people to keep their own valves.

The procedure involves removing and

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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replacing the enlarged part of the aorta with a

Dacron tube, and resuspending the natural

valve into the tube so that the tube supports

the valve. The procedure is often performed at

an earlier stage than traditional valve

replacement. It may also be offered to women

with aortic enlargement who are considering

becoming pregnant, because it can prevent the

rapid aortic growth and possible tearing that

sometimes occur during pregnancy.

Nervous system. If dural ectasia

(swelling of the covering of the spinal

cord) develops, medication may help

minimize any associated pain.

Lungs. It is especially important that

people with Marfan syndrome not

smoke, as they are already at

increased risk for lung damage. Any

problems with breathing during sleep

should be assessed by a doctor.

Pregnancy poses a particular concern due to

the stress on the body, particularly the heart. A

pregnancy should be undertaken only under

conditions specified by obstetricians and other

specialists familiar with Marfan syndrome. In

some cases, valve surgery prior to pregnancy

may be warranted. The pregnancy should be

monitored as a high-risk condition. Women

with Marfan syndrome may also seek genetic

counseling concerning the likelihood that they

will pass the disease on to their children.

Although eating a balanced diet is important for

maintaining a healthy lifestyle, no vitamin or

dietary supplement has been shown to help

slow, cure, or prevent Marfan syndrome.

For most people with Marfan syndrome,

engaging in moderate aerobic exercise is

important for promoting skeletal and

cardiovascular health and a sense of

well-being. However, because of the risk of

aortic dissection, people with the syndrome

should not engage in contact sports,

competitive athletics, or isometric exercise.

What Are Some of the Emotional

and Psychological Effects of Marfan

Syndrome?

Being diagnosed and learning to live with a

genetic disorder can cause social, emotional,

and financial stress. It often requires a great

deal of adjustment in outlook and lifestyle. A

person who is an adult when Marfan syndrome

is diagnosed may feel angry or afraid. There

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may also be concerns about passing the

disorder to future generations or about its

physical, emotional, and financial implications.

The parents and siblings of a child diagnosed

with Marfan syndrome may feel sadness,

anger, and guilt. It is important for parents to

know that nothing that they did caused the

fibrillin-1 gene to mutate. Parents may be

concerned about the genetic implications for

siblings or have questions about the risk to

future children.

Some children with Marfan syndrome are

advised to restrict their activities. This may

require a lifestyle adjustment that is hard for a

child to understand or accept.

For both children and adults, appropriate

medical care, accurate information, and social

support make it easier to live with the disease.

Genetic counseling may also be helpful for

understanding the disease and its potential

impact on future generations.

While Marfan syndrome is a lifelong disorder,

the outlook has improved in recent years. As

early as the 1970s, the life expectancy of a

person with Marfan syndrome was two-thirds

that of a person without the disease; however,

with improvements in recognition and

treatment, people with Marfan syndrome now

have a life expectancy similar to that of the

average person.

What Research Is Being Conducted

on Marfan Syndrome?

Several years ago, National Institutes of Health

(NIH)-funded researchers found that losartan,

a common blood pressure medication, also

affected a molecular pathway involved in aortic

weakening and rupture, an often fatal

complication of Marfan syndrome.

Numerous studies are underway that should

lead to a better understanding of Marfan

syndrome and its treatment. They include a

plan to identify the factors responsible for the

cardiovascular manifestations of Marfan

syndrome, a study to better understand the

process that leads to skeletal manifestations,

and studies to clarify the role of a chemical

messenger called transforming growth

factor-beta (TGF-β) in the disorder. Some of

the most recent studies are identifying new

potential therapeutic targets for Marfan

syndrome.

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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Scientists are conducting research on Marfan

syndrome from a variety of perspectives. One

approach is to better understand what

happens once the genetic defect or mutation

occurs. How does it change the way

connective tissue develops and functions in

the body? Why are people with Marfan

syndrome affected differently? Scientists are

searching for the answers to these questions

both by studying the genes themselves and by

studying large family groups affected by the

disease. Mouse models that carry mutations in

the fibrillin-1 gene may help scientists better

understand the disorder. Animal studies that

can provide preliminary information for gene

therapy are also underway.

Other scientists are focusing on ways to treat

some of the complications that arise in people

with Marfan syndrome. Clinical studies are

being conducted to evaluate the usefulness of

certain medications in preventing or reducing

problems with the aorta.

For example, research has shown that the

blood pressure medication losartan prevents

aortic aneurysms in a mouse model of Marfan

syndrome. Studies receiving funding are now

underway to determine whether the drug has

the same beneficial effect in people.

More information on research is available from

the following websites:

NIH Clinical Research Trials and

You helps people learn more about

clinical trials, why they matter, and how

to participate. Visitors to the website

will find information about the basics of

participating in a clinical trial, first-hand

stories from actual clinical trial

volunteers, explanations from

researchers, and links to how to search

for a trial or enroll in a researchmatching program.

ClinicalTrials.gov offers up-to-date

information for locating federally and

privately supported clinical trials for a

wide range of diseases and conditions.

NIH RePORTER is an electronic tool

that allows users to search a repository

of both intramural and extramural

NIH-funded research projects from the

past 25 years and access publications

(since 1985) and patents resulting from

NIH funding.

PubMed is a free service of the U.S.

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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National Library of Medicine that lets

you search millions of journal citations

and abstracts in the fields of medicine,

nursing, dentistry, veterinary medicine,

the health care system, and preclinical

sciences.

Where Can People Find More

Information About Marfan

Syndrome?

National Institute of Arthritis and

Musculoskeletal and Skin Diseases

(NIAMS)

Information Clearinghouse

National Institutes of Health

1 AMS Circle

Bethesda, MD 20892-0001

Phone: 301-495-4484

Toll Free: 877-22-NIAMS (877-226-4267)

TTY: 301-565-2966

Fax: 301-718-6366

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov

Other Resources

National Human Genome Research

Institute (NHGRI)

National Institutes of Health

Website: http://www.genome.gov

NHGRI Genetic and Rare Diseases

Information Center

Website: http://www.genome.gov

National Marfan Foundation (NMF)

Website: http://www.marfan.org

National Organization for Rare Disorders

(NORD)

Website: http://www.rarediseases.org

March of Dimes Birth Defects Foundation

Website: http://www.marchofdimes.com

American Heart Association

Website: http://www.americanheart.org

For additional contact information, visit the

NIAMS website or call the NIAMS Information

Clearinghouse.

Acknowledgments

The NIAMS gratefully acknowledges the

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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assistance of the following individuals in the

preparation and review of the original version

of this booklet: Bernadette Tyree, Ph.D.,

NIAMS/ NIH; Priscilla Ciccarielo, Director

Emeritus, National Marfan Foundation, Port

Washington, NY; Harry C. Dietz, M.D., Johns

Hopkins University School of Medicine,

Baltimore, MD; Carolyn Levering and Eileen

Masciale, National Marfan Foundation, Port

Washington, NY; Francisco Ramirez, M.D.,

Mount Sinai School of Medicine of the City

University of New York, NY; and Joel

Rosenbloom, M.D., Ph.D., University of

Pennsylvania, Philadelphia, PA.

The mission of the National Institute of Arthritis

and Musculoskeletal and Skin Diseases

(NIAMS), a part of the U.S. Department of

Health and Human Services’ National Institutes

of Health (NIH), is to support research into the

causes, treatment, and prevention of arthritis

and musculoskeletal and skin diseases; the

training of basic and clinical scientists to carry

out this research; and the dissemination of

information on research progress in these

diseases. The NIAMS Information

Clearinghouse is a public service sponsored

by the NIAMS that provides health information

and information sources. Additional information

can be found on the NIAMS website at

www.niams.nih.gov.

For Your Information

This publication contains information about

medications used to treat the health condition

discussed here. When this booklet was

printed, we included the most up-to-date

(accurate) information available. Occasionally,

new information on medication is released.

For updates and for any questions about any

medications you are taking, please contact

U.S. Food and Drug Administration

Toll Free: 888–INFO–FDA

(888–463–6332)

Website: http://www.fda.gov

For updates and questions about statistics,

please contact

Centers for Disease Control and

Prevention’s National Center for

Health Statistics

Toll Free: 800–232–4636

Website: http://www.cdc.gov/nchs

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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This booklet is not copyrighted. Readers are

encouraged to duplicate and distribute as

many copies as needed.

Additional copies of this booklet are available

from:

National Institute of Arthritis and

Musculoskeletal and Skin Diseases

(NIAMS)

Information Clearinghouse

National Institutes of Health

1 AMS Circle

Bethesda, MD 20892-0001

Phone: 301-495-4484

Toll Free: 877-22-NIAMS

(877-226-4267)

TTY: 301-565-2966

Fax: 301-718-6366

Email: NIAMSinfo@mail.nih.gov

Website: http://www.niams.nih.gov

NIH Publication No. 12–7844

Many of our publications are

available in print. Would you like to

order publications on connective

tissue disorders to be mailed to

you? Visit our online order form.

Questions and Answers about Marfan Syndrome http://www.niams.nih.gov/Health_Info/Marfan_Syndrome/

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