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Marfan syndrome is a genetic disorder of the connective tissue. The most serious complications are defects of the heart valves and aorta. It may also affect the lungs, eyes, the dural sac surrounding the spinal cord, skeleton and the hard palate.

St George’s University Hospitals NHS Foundation Trust provides a regional and national referral clinic for diagnosis and management of Marfan syndrome in patients and their families. Family history is taken and patients are examined, including a screening echocardiogram, to measure the diameter of the aorta and look for valve leakage. The team can also refer onward for eye examination and spine and chest deformity.

Once a diagnosis is made, medication is recommended (usually beta-blocker) to protect the aorta from enlarging rapidly. Annual echocardiograms are performed, and when the aortic root reaches 5cm in diameter, the patient is referred for aortic replacement surgery. If the aortic or mitral valve is leaking, these may be repaired or replaced.

In the Sonalee laboratory, a research/service programme is underway to identify mutations in the fibrillin-1 gene, the gene which causes Marfan syndrome. Mutations are found in 92% of Marfan syndrome patients, and these can be used to confirm the diagnosis, screen the family, and offer prenatal screening in pregnancy. In addition, preimplantation genetic diagnosis is offered in conjunction with Guys’ Hospital and the Bridge Hospital. If successful, this ensures that the foetus is unaffected.

St George's, University of London, which shares a site with the Trust in Tooting, houses the information centre for the Marfan Trust, a registered charity which raises funds specifically to find better treatment for Marfan syndrome patients.

For more information on the Marfan Trust, contact the Charity Administrator, on 020 8725 1189 or e-mail: marfantrust@sgul.ac.uk.