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What is Marfan Syndrome?

Marfan Syndrome is a heritable disorder of connective tissue that affects many organ systems, including the skeleton, the lungs, the eyes and the heart and blood vessels. The condition can affect both men and women of any race or ethnic group. It is thought to affect at least one in every 5 000 of the population.

What are the symptoms?

	1. Myopia, ectopia lentis, glaucoma, cataract, retinal detachment, amblyopia, strabismus
	2. High, narrow palate
	3. Pectus carinatum or excavatum
	4. Aortic dissection and aneurysm. Bicuspid aortic valve. Mitral prolapse.
	5. Spontaneous dislocation. Hernia
	6. Abnormal joint mobility
	7. Pes planus
	8. Dural ectasia
	9. Emphysema. Spontaneous pneumothorax
	10. Scoliosis
	11. Striae
	12. Height : armspan to height ratio greater than 1.05
	13. Above average height
	14. Attention deficit, hyperactivity

The most serious problems associated with Marfan Syndrome involve the cardiovascular system. The two leaflets of the mitral valve may billow backward when the heart contracts. This is called "mitral valve prolapse" and may lead to leakage of the mitral valve and/or be associated with irregular heart rhythm.

The aorta (the main artery carrying blood away from the heart) is generally wider and more fragile in patients with Marfan Syndrome. The widening is progressive and can lead to leakage of the aortic valve or in the development of tears (dissection) in the wall of the aorta. Surgical repair is then necessary.

Skeletal manifestations include curvature of the spine (scoliosis), abnormally shaped chest (pectus deformity), tall stature and loose jointedness.

Marfan patients are generally near-sighted (myopic). In addition, about half have dislocation of the ocular lens.

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How is Marfan syndrome diagnosed?

Marfan Syndrome may be difficult to diagnose because there are no laboratory tests for the condition. In addition, signs of the condition vary greatly from one person to the next. Most affected people will not have all the possible signs and complications of Marfan Syndrome.

Diagnosis is normally as a result of a careful physical examination of all the systems involved using such tests as echocardiogram (a sound-wave picture of the heart), "slit-lamp" examination by an ophthalmologist and x-rays of the skeleton. The diagnosis tool on this site allows a reliable and complete diagnosis to be made.

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How is Marfan Syndrome treated?

There is no cure for the condition, but careful medical management can improve the quality of life and increase life expectancy.

Every person with Marfan Syndrome should have a yearly echocardiogram to check the size and function of the heart and aorta. They should have an initial slit-lamp eye examination and periodic follow-up tests by an eye specialist as necessary. The skeletal system should be carefully monitored, especially during childhood and adolescence.

A medication called a beta-blocker may be prescribed to lower blood pressure and reduce stress on the aorta. People with mitral valve prolapse should take antibiotics for dental and genito-urinary procedures to prevent endocarditis (infection of the heart valve). To reduce the risk of injury to the aorta and lenses, people with Marfan Syndrome should avoid strenuous exercise and contact sports.

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What causes Marfan Syndrome?

A single abnormal (mutant) gene causes the condition. In 75% of the cases this is inherited from a parent who is also affected.

Marfan Syndrome is inherited as an "autosomal dominant" condition. This means that any offspring have a 50% chance that they will inherit the condition.

Disclaimer

SAMSO recommends treatment for the symptoms of Marfan Syndrome (eg. betablockers to keep blood pressure low, aortic replacement at 5,5cm, regular eye examinations, etc.). It is important to note that these recommendations are as a result of independent research (contact SAMSO for details), as well as the experience of SAMSO members. We are trying to save lives and help Marfan patients - NOT to make pharmaceutical companies and doctors/hospitals rich.

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