Marfan syndrome

The Marfan syndrome occurs in 1:5,000 to 1:10,000 cases, 70 per cent of which are hereditary. Marfan patients have a mutated gene on the long arm of chromosome 15, which effects the development of the protein fibrillin. Fibrillin is a major component of what are known as the microfibrils, which form a sheath around the elastin fibres of the connective tissue and are found in almost all parts of the body. Due to genetic mutation there is a certain degree of instability in the body’s connective tissues.Distinctive features are abnormally long limbs, above average height, abnormal joint flexibility, abnormal curvature of the spine and vision disorders.The main dangers associated with Marfan syndrome result from changes in the cardiovascular system:aneurysms and tears in the shape of extensive splits, or dissections, can form in the aortic wall. The cardiac valves can also be affected; problems can arise in particular from the valves on the left side of the heart, which are unable to close properly because of the changes to the surrounding connective tissue.Life expectancy is heavily dependant on treatment of the cardiovascular condition, which can require both medication and surgical measures. Regular monitoring is important in order to recognise and treat any dilations of the main artery at an early stage. Without treatment patients with Marfan syndrome have a life expectancy of only 30 – 40 years.