Marfan's syndrome

April 2017


Definition


Marfan's syndrome is a rare disease of genetic origin. It is caused by an abnormality in a protein called type 1 fibrillin. It affects all organs of the human body, especially the eyes, skeleton and cardiovascular system. It also affects the aorta, where its severity can cause aortic rupture or dissection. It manifests itself during childhood and close monitoring is necessary throughout life.

Symptoms


Symptoms of Marfan's syndrome are mainly present in the three most affected organs , but may for others cause no visible symptoms:
  • typically, a very large size, with increased height;
  • arms and legs that are longer than normal;
  • deformation of the chest that appears to have a home in the middle between the two nipples;
  • laxity of ligaments with instability of joints;
  • myopia;
  • retinal detachments occasionally;
  • a breach of the aorta which can become expanded;
  • an aneurysm of the aorta;
  • heart failure and all these signs of failure of a valve of the heart;
  • hernia and pneumothorax (air in the pleura surrounding the lungs) are more frequent than in the normal population.

Diagnosis


Marfan's syndrome is suspected in all of these clinical signs. The existence of Marfan's syndrome in a parent allows for a confirmation of the diagnosis in the presence of these typical signs. When in doubt, as this disease can appear spontaneously by a spontaneous mutation of a gene, a genetic analysis may be performed. Echocardiography of the aorta will be systematically carried out initially and periodically to search for possible repercussions on the heart or the aorta.

Treatment


Treating Marfan's syndrome consists of using beta-blockers, whose function is to limit the expansion of the aorta. Surgical treatment may also be performed in cases of excessive expansion of the aorta or an aneurysm. In this case, a prosthesis is often required. Heart valve damage is sometimes also treated surgically.

Prevention


There is no way to prevent the occurrence of such a genetic disease. A person with the syndrome is at risk of transmitting the disease to his/her child. A prenatal diagnosis can be established.

Related

Original article published by . Translated by Jeff. Latest update on July 1, 2013 at 01:17 PM by Jeff.
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