Marfan Syndrome

Marfan Syndrome – Condition of the Body’s Connective Tissues

Marfan syndrome is a condition of the body’s connective tissues which is a group of tissues that maintains the structure of the body and supports internal organs as well as other tissues. The connective tissues help to control the growth and the development of the body.Marfan syndrome mostly affects the connective tissue of the heart and blood vessels, bones, eyes, lungs and the covering of the spinal cord and due to this condition it could affect several parts of the body, resulting in many complications some of which could be life threatening.

Children are likely to inherit it from one of their parents. Some characteristics or signs of Marfan syndrome would include heart defects, being tall, lens dislocation, wherein the lens of the eye gets into an abnormal position, abnormally long and slender limbs, fingers and toes. It is a genetic disorder, a change or a mutation in the gene which tends to control the formation of fibrillin, which is a protein that has a major role in the body’s connective tissue and is the cause of Marfan syndrome.

Heart & Aorta Serious Complication

This ailment varies from person to person and while some people suffering from this condition may have several signs or traits, others may have only a few of them. The heart and the blood vessels is the most serious complication of Marfan syndrome which can also affect the aorta, which is the main blood vessel supplying oxygen rich blood to the whole body.

When affected with this ailment, the aorta tends to stretch and grow weak and this condition is known as aortic dilation or aortic aneurysm and if the aorta stretches and grows weak, there could be a tear or burst and the possibility of blood leak. This condition is known as aortic dissection which is very dangerous and may lead to severe heart problem or even death.

There is no cure for Marfan syndrome though treatment could help in delaying or preventing complications which may set in and hence the treatments is focused on handling the symptoms and reduce the risk of any complications. Treatments include medicine, surgery together with other therapies.

Genetic Test to confirm definitive Marfan Syndrome

Certain activities could be limited or changed and the performance of the same could contribute some help in reducing the risk to the eyes, aorta and the joints. Treatment is based on the condition affecting the body. Diagnosing this disease could be difficult since the symptoms may differ from person to person and as the symptom does not always develop during childhood, it could also occur during teenage years.

A diagnosis of Marfan syndrome in most cases is based on a thorough physical examination together with detailed assessment on the medical and family history of the person. To confirm definitive, Marfan syndrome, a genetic test is done by closely studying the affected gene though it could be time consuming as well as an expensive process since the gene can mutate in over 1,000 various ways. The life span of the person with Marfan syndrome is likely to be short if the heart and aorta are affected.