What Is Marfan Syndrome?    
Marfan syndrome is a genetic disorder that was first described by the French doctor Bernard J. A. Marfan in 1896. It affects many organ systems, including the eyes, skeleton, lungs, heart and blood vessels. The severity can vary widely from one individual to the next. It is caused by a mutated gene (fibrillin-1 on chromosome 15) and can be either inherited or caused by spontaneously mutated genes. Marfan syndrome affects men and women of all ethnic groups. If there is no family history of Marfan syndrome, it can be very difficult to diagnose.

 
Affected Body Systems    
Eyes
Many people with Marfan Syndrome are near sighted. Dislocation of the lenses can occur, as well as detachment of the retinas.
 
Muscles and Skeleton
  • Scoliosis (curvature of the spine) and pectus deformity (sunken or abnormally shaped chest) are often prominent in Marfan patients.
  • Abnormally tall stature and joint hypermobility can also be prevalent. This can lead to easily dislocated joints and joint pain.
  • High arched palate and crowded teeth.
  • Arm span longer than height.
 
Lungs
The chance for spontaneous pneumothorax (collapsed lungs) is much higher for those with Marfan Syndrome than members of the general populations. Trauma to the chest also greatly increases the chance of collapsed lungs.
 
Heart and Blood Vessels

Some of the heart characteristics of a Marfan patient include mitral valve prolapse and an enlarged aorta

  • Mitral Valve Prolapse (MVP) occurs when the flaps of the mitral valve, which regulates the blood flow from the left atrium to the left ventricle, bulges against the flow of blood.
  • An enlarged aorta is one of the most critical symptoms of people with Marfan syndrome. The aorta is made up of the same type of connective tissue that are in our joints. The aorta begins to weaken as the heart pumps blood through it. It reacts like an old rubber band that stretches out and cannot return to its original form. After a period of time, the aorta may become dissected or even rupture. This is an extremely serious, life threatening situation.
Diagnosis of Marfan Syndrome?    

While there are some genetic tests for Marfan syndrome, it is usually diagnosed after close examination of the body systems affected. Echocardiograms are used to measure the size of the ascending aorta. Slit-lamp eye exams will detect lens detachment in the eyes. X-rays detect any irregularities in the spine. Other routine tests are administered to check the other body systems

Some of the common Indicators of Marfan syndrome include:

  • a tall, thin stature with unusually long arms
  • long, double-jointed fingers
  • flat feet
  • scoliosis
  • nearsightedness
  • a chest bone that curves inward or outward
 
Treatment of Marfan Syndrome?    
At this time, there is no cure for Marfan syndrome. Medications are used to moderate the effects of Marfan syndrome on the body. Beta-blockers are used to decrease blood pressure and reduce the strain on the aorta. Echocardiograms should be done regularly to monitor the size of the aorta. If the aorta gets too large, surgery may be necessary to repair it before it dissects or ruptures. Antibiotics may be given prior to dental work or other minor surgical procedures to reduce the risk of infection
 
Living with Marfan Syndrome?    
Many people with Marfan Syndrome are able to live a relatively normal live, with certain limitations. Regular exercise, without excess exertion, is an important to the regimen. Competitive sports or sports with physical contact should be avoided. Since fatigue is a problem, pacing yourself is necessary. Smoking should be avoided since it destroys elastin, which is a protein that is deficient in Marfan patients.
 
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