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What is Marfan syndrome? | The Marfan Trust
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What is Marfan syndrome?

Marfan syndrome is an inherited disorder of the body’s connective tissue that affects men and women of any race or ethnic group

Marfan syndrome was identified in 1896 by a French physician, Antoine Marfan. The syndrome is an inherited disorder of the body’s connective tissue which predisposes to medical problems affecting the heart, eyes and skeleton, requiring treatment to prevent serious complications.

Those affected suffer from one or more of the following problems:Guide_to_Marfan

  • eyes – dislocation of lenses, short-sightedness, retinal detachment, glaucoma
  • skeleton – excessive height with long limbs and fingers, flat feet, protruding or indented chest bone, loose joints, scoliosis, early osteoarthritis
  • heart – ballooning and potentially fatal tearing of the aorta, backward billowing of the heart’s valves

Sufferers can live with the first two problems – the last can cause death at an early age unless diagnosed in good time and treated medically and surgically.

Males and females are affected equally. Each child of an affected parent has a 50% chance of inheriting Marfan syndrome.

For more general information please read our Guide to Marfan Syndrome.

The AIMS Trial

AIMS logo The main purpose of this study is to evaluate how effective a medicine called Irbesartan is for reducing the rate of expansion of the aorta in Marfan syndrome patients. We are looking for patients between the ages of 6-40 years who may be interested in participating. Please contact us for more information marfantrust@sgul.ac.uk
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