Additional Information

If you have or are being tested for Marfan syndrome research is being conducted in many centers to prevent this disease. If you are interested in participating in studies and research, or would just like more information on Marfan Syndrome you may want to contact the following agencies.

National Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050-2023
Phone: 800-8-MARFAN (862-7326) (free of charge)
Fax: 516-883-8040
E-mail: staff@marfan.org
www.marfan.org

American Heart Association
7272 Greenville Avenue
Dallas, TX 75231
Phone: 800-AHA-USA1 (242-8721) (free of charge)
E-mail: inquiries@heart.org
www.americanheart.org

National Human Genome Research Institute (NHGRI)
National Institutes of Health
9000 Rockville Pike
Bethesda, MD 20892
Phone: 800-411-1222 (free of charge) (for information about entering a clinical study)
E-mail: prpl@mail.cc.nih.gov

Also to join a Marfan Syndrome support group call your local health clinic.

Living With Marfan Syndrome

For people who have Marfan syndrome, you can expect a normal life. They can now have a regular lifespan thanks to medical technology and advances. People who have Marfan syndrome usually cannot play in competitive sports because it places extra stress on the body and can lead to serious health complications. However, some are lucky enough to have a mild enough case that they can still participate. Activities such as walking. biking, and golfing are encouraged as they can be low key and still entertaining for people affected by Marfan syndrome. When doing high cardio activities patients are encouraged to have an excersize buddy, just in case something should happen, or wear a heart monitor. Many patients can take medicine to prevent problems and pain related to Marfan syndrome and live a completely normal life.

Treatment of Marfan Syndrome

There is no cure for Marfan syndrome. People who are diagnosed will have the syndrome for life. Although their is no cure, treatments are available to help with the problems associated with Marfan syndrome. Heart medications can be prescribed for mummers, circulation disorders, and weakness of the heart valves. Beta-blockers can also be used to decrease stress on the arteries. Glasses can be worn to help with vision problems and other problems can be treated as needed. Annual evaluations of the skeletal system are needed to detect changes in the sternum and ratios of growth. Regular checkups of the heart are also needed because this is such a fragile and important organ.

Marfan Syndrome affects many parts of the body meaning people with the syndrome should see a number of doctors. A pediatrician should be seen for regular health care and can recommend the patient to specialists. A cardiologist, an orthopaedist, and an ophthalmologist can be seen to treat problems with the syndrome as needed. Also a geneticist can be seen for certain patients although it is not needed for most.

What Causes Marfan Syndrome

Their are two causes for Marfan syndrome. One cause is a defect of chromosome 15 that occurs during development in the womb. They are born with the syndrome but many times may not be diagnosed until later in life when the signs and symptoms become more developed. This is because the gene mutation is a variable expression which means it shows in different ways for different people but still carries the same characteristics. Another cause for Marfan syndrome is the inheritance of the defective gene. Children with one parent who has the disease have a 50% chance of inheriting it. If both parents have the disease it is almost certain the child will be affected as well.

How is Marfan Syndrome Diagnosed?

Marfan Syndrome cannot be diagnosed by a specific test although a genetic analysis may be useful to diagnose a patient they are time consuming and often the results are indecisive either way. To diagnose a patient doctors observe medical history including families with the disease or unexplained, heart related deaths in the family, an evaluation of the skeletal frame for the ratio of limb to trunk size, a slit-lamp eye examination, echocardiogram heart tests, and ultra sounds of the heart. Each patient must have three body systems affected by the specific problems related to Marfan syndrome to be diagnosed. If a patient has a family history of the disease, only two body systems must be affected to be diagnosed.

Signs and Symptoms of Marfan Syndrome

Signs and Symptoms of Marfan Syndrome include:
- very tall, slender, and loose jointed skeletons
-indented sternum
-flat feet
- dislocation of one or both lenses of the eye (meaning vision would be slightly higher or lower than the normal vision tunnel)
- nearsightedness
- glaucoma
- abnormalities associated with the heart and blood vessels such as weakened aorta, leaking of valves causing heart mummers, palpitations, and shortness of breath (related to heart defects)
- weakened dura, membrane around spinal cord containing essential fluids.
- increased risk of hernia, or reoccurring hernias
- a family history of Marfan Syndrome is also a significant sign
These signs can range from mild to harsh depending on the severity of each case.

What is Marfans Syndrome?

Marfan syndrome is a genetic mutation that takes place on the 15th chromosome. The genetic mutation can be inherited through dominant traits or occur during early development. The condition is caused by a defect in the bodies’ production of fibrillin, a special protein that is found in connective tissue throughout the body. This causes weakened connective tissue which leads to problems in places such as the eyes, the heart, and joints. Although this disorder is rare (only 1 in every 5,000 people will be diagnosed) people with Marfan syndrome can now get medical treatment to have the same lifespan as everyone else.




This is Abe Lincoln. It is suspected he had Marfan Syndrome.