EMSN - European Marfan Support Network

The European Marfan Support Network is a coalition of support organisations for people
affected by the Marfan Syndrome or related disorders.

Marfan Syndrome

Marfan Syndrome is an inherited disorder of the connective tissue but in a minority of cases it occurs spontaneously. It can affect the heart and blood vessels, eyes and skeleton. In 1896 Dr. Antoine Jean Marfan, a French paediatrician, identified the disorder. Although Marfan Syndrome has been known for more than a hundred years, most characteristics were identified in the last 50 years. Symptoms and severity vary greatly among affected people and symptoms can get more acute as the body grows. It is estimated that at least one in every 5,000 people in the world have Marfan Syndrome or a related connective tissue disorder.

Diagnosis

At the moment there is no simple test for Marfan Syndrome. An accurate diagnosis can be made only after a complete physical examination that focuses on the systems affected by the disorder. It is important to check the heart with an echocardiogram. The identification of the chromosomes, the genes and the component of connective tissue (fibrillin) in which the mutations for Marfan Syndrome are located shows great promise. It is hoped that a better understanding of fibrillin will enable much earlier and more accurate diagnosis.

Symptoms of Marfan Syndrome

Heart and blood vessels.

Tissues in the heart and blood vessels are weaker in people with Marfan syndrome than normal. As the heart pumps the blood through the aorta (the main blood vessel) it can be stretched and damaged, causing a dissection (or rupture) which is life threatening and needs immediate surgery. Regular echocardiograms are essential to monitor the aorta. Leaking heart valves may also be a reason for heart surgery. New drugs and surgical techniques have revolutionized treatment and outcomes.

Eyes

The main problems are myopia, dislocated lenses and retinal detachment. These problems can, in many cases, be corrected by glasses, contact lenses or surgery.

Skeleton

The physique is characteristically tall and slim. A misshapen chest or scoliosis (curvature of the spine) is quite common. Teeth can be crowded with a high arched palate.

The formation of EMSN has enabled European Marfan organisations to develop a Europe-wide network to support and encourage one another through exchanging and sharing information, working for the benefit of people with Marfan Syndrome or related disorders and their families.

Impress: Marfan Hilfe (Germany) e.V. (www.marfan.de)