Marfan syndrome is a disorder of the connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows. Because connective tissue is found throughout the body, Marfan syndrome features can occur in many different parts of the body.
Marfan syndrome features are most often found in the heart, blood vessels, bones, joints, and eyes. Sometimes the lungs and skin are also affected. Marfan syndrome does not affect intelligence.
About 1 in 5,000 people have Marfan syndrome. This includes men and women of all races and ethnic groups.
What Causes Marfan Syndrome?
Marfan syndrome is caused by a defect (mutation) in the gene that tells the body how to make fibrillin-1 -- a protein that is an important part of connective tissue.
This defect results in an increase in a protein called transforming growth factor beta, or TGFβ. The increase of TGFβ causes problems in tissue throughout the body, which create the different Marfan syndrome features and cause medical problems for people with Marfan syndrome.
People can inherit Marfan syndrome, meaning that they get the mutation from a parent who has the disorder. This is the case in about 3 out of 4 people with Marfan syndrome. Other people have a spontaneous mutation, meaning that they are the first in their family to have Marfan syndrome. People with Marfan syndrome have a 50-50 chance of passing the mutation on each time they have a child.
People are born with Marfan syndrome but may not notice any features until later in life. Marfan syndrome features can appear at any age, including in infants and young children. They may get worse as people age.
Marfan syndrome features occur in many different parts of the body. Always, a person with Marfan syndrome has at least 3 features in different parts of the body. Rarely, a person has every feature. Some Marfan syndrome features are easy to see. Other features, such as heart problems, are hidden and need special tests to find them. It is important that a person with 3 or more features see a doctor who knows about Marfan syndrome.
What body systems are affected?
Heart and Blood Vessels (Cardiovascular system)
- Enlarged or bulging aorta, the main blood vessel that carries blood from the heart (aortic dilation or aneurysm)
- Separation of the layers of the aorta that can cause it to tear (aortic dissection)
- “Floppy” mitral valve (mitral valve prolapse – MVP)
Bones and Joints (Skeletal system)
- Long arms and legs
- Tall and thin body type
- Curvature of the spine (scoliosis or kyphosis)
- Chest sinks in (pectus excavatum) or sticks out/pigeon breast (pectus carinatum)
- Long, thin fingers
- Flexible joints
- Flat feet
- Teeth that are too crowded
Eyes (Ocular system)
- Severe nearsightedness (myopia)
- Dislocated lens of the eye
- Detached retina
- Early glaucoma
- Early cataracts
Other Body Systems
- Stretch marks on the skin, not explained by pregnancy or weight gain
- Sudden collapse of the lung (spontaneous pneumothorax)
- Swelling of the sac around the spinal column (dural ectasia). This is found with CT or MRI scans of the back
Although scientists have determined that Marfan syndrome (MFS) is caused by a defect in the fibrillin 1 gene on chromosome 15, there is no simple blood test that can conclusively diagnose Marfan syndrome. Therefore, diagnosis is made through a clinical evaluation.
What should you do if you suspect Marfan syndrome?
Find a doctor who knows about Marfan syndrome. The first choice of doctor to look for is a medical geneticist (a doctor who specializes in genetic conditions such as Marfan syndrome).
A second choice is a cardiologist (heart doctor). Make sure the cardiologist has treated people who have MFS.
You can find a doctor by:
- Asking your primary doctor for a referral
- Calling the doctor referral service at your local hospital
- Calling your insurance provider
- Calling the National Marfan Foundation Resource Center at 800-862-7326, ext. 26
Learn the health history of you and your family. You might want to write this down in a health history notebook with lists of:
- Your past illnesses, operations, and hospitalizations
- Medications you are taking
- Reasons why you think you might have MFS
- Family members who have, or might have, MFS
- Family members who died of a heart problem
The NMF has created a Family Health History template for you to save to your computer. The U.S. Department of Health and Human Services offers an internet-based family health history tool which may also be helpful.
How is Marfan syndrome diagnosed?
Marfan Syndrome Diagnostic Criteria is a list of features doctors use to diagnose (decide if someone has) Marfan syndrome. Diagnostic criteria are sometimes called “Ghent Criteria,” named after the city in Belgium where doctors decided which features to include on the list. Some of these features are easy to see. Others need special tests to find them. These common, painless tests which are part of the clinical evaluation include:
This test looks at the heart, its valves, and the aorta (vessel that carries blood from the heart).
- Electrocardiogram (EKG)
This test checks your heart rate and heart rhythm. Your doctor may to do both an EKG and an echocardiogram.
- Slit lamp eye exam
This test, a part of most eye exams, helps your doctor see if the lenses in your eyes are dislocated (out of place).
- Other tests, such as a CT scan or MRI of the lower back
These tests can help your doctor see if you have dural ectasia, a back problem that is very common in people who have MFS.
What are the diagnostic criteria (features)?
There are both major and minor diagnostic criteria. “Major criteria” refers to features that are common in people with Marfan syndrome, but rare in others. “Minor criteria” are features that are common in many people -- those with and without Marfan syndrome.
Since Marfan syndrome affects many body systems, there are diagnostic criteria for many parts of the body (see chart below).
|Body System||Major Criteria ||Minor Criteria |
|Skeletal System (Bones & Joints)|
Major criteria of the skeletal system are met when a person has at least 4 of these features:
|Ocular System (eyes)|
|Cardiovascular System (Heart & Blood Vessels)|
|Pulmonary System (Lungs)||There are no major criteria of the pulmonary system.|
|Skin||There are no major criteria of the skin. |
|Spinal Column Sac (Dura)||Swelling of the sac around the spinal column (dural ectasia). This is found with CT or MRI scans of the back.||There are no minor criteria of the spinal column sac.|
Is there a blood test (genetic test) for Marfan syndrome?
Yes, but the use of genetic testing for the diagnosis of genetic disorders can be very complicated. This is certainly true for Marfan syndrome. Input from a geneticist or genetic counselor may be necessary to achieve a full understanding of the capabilities and limitations of genetic testing for Marfan syndrome.
At this time, there is limited use for genetic testing and a comprehensive clinical evaluation remains the most effective way to make a diagnosis of Marfan syndrome.
A genetic test alone can not tell you if you do or do not have Marfan syndrome.
How do doctors use the diagnostic criteria?
To diagnose Marfan syndrome, doctors compare a person’s test results, health history, and physical examination with the diagnostic criteria.
- If no one else in the family has Marfan syndrome, then doctors diagnose Marfan syndrome when a person has major criteria in at least two body systems and a minor criteria in a third.
- If a parent or sibling (brother or sister) has Marfan syndrome, then doctors diagnose Marfan syndrome when a person has a major criteria in one body system and a minor criteria in another.
It can be hard for even skilled doctors to make this diagnosis as features may be due to Marfan syndrome or happen for other reasons. Doctors who see many people with Marfan syndrome are more likely to make the correct diagnosis.
What are the possible diagnoses?
A person with Marfan features may or may not have Marfan syndrome. Here are some diagnoses that doctors can make:
- Marfan syndrome
A doctor makes this diagnosis when a person has the major and minor criteria as described above. In these cases, it can be said that a person “meets” the diagnostic criteria for Marfan syndrome.
- Emerging Marfan syndrome
Doctors may use this term when a child (or sometimes an adult) has just some of the diagnostic criteria for Marfan syndrome. This is likely when doctors think the child will have more features as the child grows older.
- Some other genetic disorder of connective tissue
A person who does not meet the diagnostic criteria for Marfan syndrome may instead have another genetic disorder of connective tissue. These related disorders include: Ehlers-Danlos syndrome, Loeys-Dietz syndrome, MASS phenotype, familial aortic aneurysm, and Sticklers syndrome.
- Non specific diagnosis
This term is used when a person has Marfan features but does not meet the diagnostic criteria for any known disorder.
It is important to understand that a person can have many Marfan features, but not have Marfan syndrome. For instance, a person may have many skeletal features, but that would only count as one major criteria - that being of the skeletal system. The same person would need to have criteria in other body systems in order to be diagnosed with Marfan syndrome.
Many people with Marfan features (whether they have a diagnosis or not) need medical treatment and follow-up care. Make sure to talk with your doctor about the care that is right for you.
There is no cure for Marfan syndrome. However, a range of treatment options can minimize and sometimes prevent complications. The appropriate specialists will develop an individualized treatment program; the approach the doctor uses depends on which systems are affected.
The National Marfan Foundation is a non-profit voluntary health organization dedicated to saving lives and improving the quality of life of individuals and families affected by Marfan syndrome and related disorders by:
- Educating affected individuals, family members and the health care community about Marfan syndrome.
- Advocating and funding clinical and molecular research into the early detection and treatment of Marfan syndrome.
- Providing a network of local and special-interest support groups to help affected people and their families share experiences.