Dr.Ziad Al-Zoubi Official Website
Dr. Ziad .M. Al Zoubi
Consultant Spinal and Orthopedic Surgeon.
Secretary General Pan Arab Spine Society.
Vice Chairman,, International Association of Neurorestoratology (IANR).

Jordan Orthopedic & Spinal Centre. 61 Ibn Khaldoun St. Amman-Jordan.
P.O.Box 831 046 Amman 11183 Jordan.

Tel: 00962 6 465 2900
fax:0096264650655

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josccenter
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PostSubject: marfan syndrome   Tue 18 Aug - 11:01

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. 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. The American Heart Association no longer recommends taking routine antibiotics before certain dental procedures except for people at highest risk for bad outcomes if they develop endocarditis. This includes people with a prosthetic heart valve, people who have previously had endocarditis, people with certain types of congenital heart disease, and people with a heart transplant who develop a problem with a heart valve. The AHA no longer recommends routine antibiotics solely to prevent endocarditis in patients undergoing gastrointestinal or genitourinary 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.
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