Marfan Syndrome

Marfan Syndrome is caused by a gene mutation that causes an increase in a protein called fibrillin, which in turn causes connective tissue problems, such as parts of the body being able to stretch abnormally. 

Some patients with Marfan Syndrome have obvious features, such as being very tall and thin with long limbs, a curved spine, flexible joints, flat feet and stretch marks that are not connected to weight gain or loss.

Other symptoms include an enlarged aorta and aortic dissection, sudden lung collapse and eye problems including detached retina and early glaucoma or cataracts.

Various tests including an ECG, CT (computerised tomography) and MRI (magnetic resonance imaging) scans are used to diagnose Marfan Syndrome. Genetic testing can also be carried out.

There is no cure for Marfan Syndrome, but medical professionals can offer help to manage symptoms.

Very occasional SCAD patients have been diagnosed with Marfan Syndrome but it is unknown what the link is.

The Marfan Foundation

NHS information on Marfan Syndrome 

Mayo Clinic information on Marfan Syndrome

Marfan Trust

Great Ormond Street

Cardiac Risk in the Young