Marfan Syndrome?

Question

I was diagnosed with a genetic condition called Marfan Syndrome about 6 years ago. I know all about it but not many people do. I was just wondering how many people out there know about the condition. Even some doctors I have been to have never seen anyone with it. I am just curious I guess!

By the way....I saw the program about it on the Discovery Channel a while back and it was kind of offensive, we are not giants! I am tall but only 5'10''.

Answer 1

I have heard of it, but only that its possible that Abraham Lincoln may have had it. My son was also checked for it because he had a strange protruding chest bone, but it turned out he didn't have it.

Answer 2

Marfan Syndrome


What is the Marfan syndrome?

The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age.

What are the blood vessel problems?

In the Marfan syndrome, the walls of the major arteries are weakened. The aorta, the major artery that leaves the heart, often is affected. When this occurs, it gets bigger (dilates), which can weaken the inner aortic wall. Under strenuous exertion, the aorta wall can tear. Blood can leak through these tears into the aortic wall, separating its layers -- a process called aortic dissection (dih-SEK'shun). Another problem that may occur if the aortic wall weakens is that an aneurysm (AN'u-rizm) may form.

What are the cardiac valve problems?

The Marfan syndrome can involve any of the four heart valves. The two most important ones, however, are the mitral and aortic valves. Blood may leak backward through a valve, increasing the heart's workload. As a result, over time the heart may enlarge. Mitral valve prolapse (MVP) is a common but usually less significant valve problem. People without the Marfan syndrome can have mitral valve prolapse, but those with the Marfan syndrome often have an oversized mitral valve. As it closes, the valve billows (prolapses) back into the left atrium. This causes abnormal heart sounds, which a doctor can hear with a stethoscope.

How do you treat the Marfan syndrome?

Once the Marfan syndrome has been diagnosed, regular visits with a cardiologist are needed. Chest X-rays and Doppler echo tests are usually performed. Other tests also may be necessary.

Different people may need different types of treatment. Some people may not need treatment, but others may need drugs that lower heart rate, blood pressure or both. When the aorta or aortic valve develop major problems, surgery is usually advised.

People with the Marfan syndrome who have an abnormal heart or who've had heart surgery for their Marfan syndrome risk developing an infection of the heart wall or heart valve (endocarditis). This happens when bacteria enter the bloodstream. To prevent this, antibiotics are given before certain dental or surgical procedures.

What about lifestyle changes?

Physical activities - Because the Marfan syndrome appears in many forms, recommendations about exercise vary widely. For example, people with dilation of the aorta may be asked to avoid the usual team sports. Isometric exercises (such as weight lifting or rowing) and contact sports in which a blow to the chest could occur (such as football or hockey) also may be off-limits. Many people with the Marfan syndrome can participate in modified physical and recreational activities. A cardiologist can give advice about this.


Pregnancy - During pregnancy (and especially during delivery) stress to the aorta's walls greatly increases the risk of dissection or rupture. That's why pregnancy isn't advised for women with the Marfan syndrome who have a dilated aorta. There's also a good chance that people with the disease may pass it on to their children.

Answer 3

Abe Lincoln had Marfan's. It is a condition with signature syptoms...longer arms than usual, many side effects. It can shorten life somewhat, but not the end of the world. Caused by recessive genes that require that both mother and father be carriers or active with condition.

Answer 4

Aorta Disease, Marfan Syndrome, and Connective Tissue Disorders

The aorta is the large artery that leaves the heart and provides oxygen-rich blood throughout the body. Many diseases and conditions, such as atherosclerosis (hardening of the arteries), hypertension, genetic conditions (such as Marfan Syndrome), a connective tissue disorder (such as Ehler-Danlos disorder, polychondritis, scleroderma, osteogenesis imperfecta, polycystic kidney disease, and Turners Syndrome) and injury, can cause the aorta to dilate (widen) or dissect (tear), placing you at increased risk for future life-threatening events. Those with disease of the aorta should be treated by an experienced team of cardiovascular specialists and surgeons.

Marfan Syndrome is a genetic condition that affects the body's connective tissue. Connective tissue provides support to many structures within the body, such as the heart, blood vessels, eyes, bones, nervous system and lungs. Those with Marfan Syndrome require a multi-disciplinary approach to their care and long-term follow-up.

http://www.clevelandclinic.org/heartcenter/pub/guide/disease/aorta_marfan/default.asp?firstCat=3&secondCat=246&thirdCat=493?source=overture&OVRAW=marfan%20syndrome&OVKEY=marfan%20syndrome&OVMTC=standard

Answer 5

I know about it. i heard it on a Discovery channel program about giants

Answer 6

i heard about it on that same program. i knew it sounded familiar.