Marfan syndrome is a disorder of a connective tissue. As connective tissue are found throughout the body, features of the Marfan syndrome can occur in various parts of the body. Commonly, these features are found in the heart, blood vessels, bones, joints, and eyes. At times, the lungs and skin are also affected. Luckily, Marfan syndrome does not affect intelligence and the probability is only 1 in 5,000 people.

Causes

Marfan syndrome is caused by a mutation in the gene that tells the body how to make fibrillin-1, a protein that is an important part of connective tissue. As a result of this defect, there is an increase in a protein called transforming growth factor beta (TGFβ). This increase in TGFβ causes problems in the tissues throughout the body, thus creating different Marfan syndrome features and medical problems for the person.

Generally, one can inherit Marfan syndrome from his or her parent who has the disorder. This is the case for most of the people with Marfan syndrome. Others are the first in their family to have Marfan syndrome. Sad to say, the probability of passing the mutation on each time the person has a child is 50-50.

Features

Normally, a person with Marfan syndrome has at least three features in different parts of the body. It is a rare sight for a person to have every feature. Some of the features are easy to tell while others such as heart problems require special tests to find them. Generally there are four body systems that are affected.

First and foremost is the cardiovascular system. One of the worries for this part is the enlargement in the main blood vessel that carries blood from the heart.

Next, the skeletal system is also affected. A person with Marfan syndrome may have long arms and legs, and is usually tall and thin. Sometimes, his or her spine may be curved and the chest either sinks in or sticks out. Also, they may have long and thin fingers as well as flexible joints and flat feet. On other occasions, their teeth may be too crowded too.

Thirdly, the ocular system or the eyes are also affected. One with Marfan syndrome may have severe myopia and dislocated lens of the eye. At times, the retina may be detached and there are also chances of early glaucoma and early cataracts.

Finally, other body systems such as the skin can also be affected if the person has a Marfan syndrome.

Diagnosis

In order for the doctors to determine if a person has a Marfan syndrome, tests have to be carried out. Some of the common tests are as listed below.

First, an Echocardiogram looks at the heart, its valves, and the aorta.

Secondly, an Electrocardiogram takes a reading of the heart rate and rhythm.

Thirdly, a doctor may use a slit lamp eye exam. In this test, the doctors may check and see if the lenses in the eyes are dislocated.

Treatment

To date, there is no cure for Marfan syndrome. The best that the doctors can do is to provide a range of treatment options to minimise and prevent complications in the patients.