Marfan Syndrome – Features, Causes, Complications and Treatment

by on March 15th, 2014
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Marfan Syndrome is a genetic health condition affecting the connective tissue of the body. Since connective tissue encompasses almost the entire body, Marfan Syndrome can affect the function of various body organs. The most commonly affected organs are the skeleton, blood vessels, heart and eyes.

Body Features of Marfan Syndrome

Individuals who have Marfan Syndrome have a peculiar body physique which typically includes the following features:

* Tall and thin

* Elongated arms, legs, hands and feet that are not proportional to the body size

* Breastbone that either protrudes out or caves inward

* Heart murmurs

* Curvature of the spine

* Flat feet

* High palate and crowded teeth

Causes of Marfan Syndrome

Marfan Syndrome is caused by an inherited dominant gene passed down from one of the parents. Individuals with Marfan Syndrome have a 50-50 likelihood of having a child with the disease. Seventy-five percent of those with Marfan Syndrome inherited the gene from a parent, and the other 25 percent acquired the condition due to a new gene mutation, according to the Marfan Association in the UK.

Between one in 5000 and one in 10,000 people have Marfan Syndrome. There does not appear to be any distinction among ethnic groups or different countries as to the incidence of this disease.

Complications of Marfan Syndrome

The most serious problems involve the cardiovascular system. These include:

* Aortic aneurysm

* Aortic dissection

* Valvular malformations

The lungs are affected due to the spine curvature and breastbone abnormalities. These problems include:

* Emphysema

* Sleep apnea

* Spontaneous collapsed lung

* Chronic obstructive lung disease (COPD)

Eye Complications include:

* Glaucoma

* Cataract

* Detached retina

* Dislocated lens in one or both eyes

Pregnancy complications can occur if the aorta is enlarged prior to pregnancy. These patients are at a higher risk for aortic dissection and rupture.

Treatment for Marfan Syndrome

No treatment exists for Marfan Syndrome, but the focus is on prevention of the above complications. Since the cardiovascular complications are the most life-threatening, physicians recommend an annual cardiology check-up.

Guidelines focused on maintaining a lower blood pressure encourage the use of beta-blockers to lower the blood pressure and reduce the workload of the heart, thus decreasing the risk of aortic dissection and rupture.

Surgery may be indicated if the size of the aorta reaches a diameter of five centimeters or two inches. The dilated portion of the aorta would be replaced with a graft to reduce the risk of rupture.

http://www.mayoclinic.com/health/marfan-syndrome/DS00540/DSECTION=symptoms

http://www.geneticseducation.nhs.uk/learning-genetics/common-genetic-conditions/marfan-syndrome.aspx


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