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Marfan syndrome

What are the symptoms?

Complications may arise, but it is important to note that the range of complications caused by Marfan syndrome, and their severity, varies considerably between individuals. These complications may include:

Cardiovascular
Aortic aneurysm, aortic dissection (tears in the wall of the aorta), and mitral valve prolapse sometimes requiring surgical repair. For this reason, each person suspected of this diagnosis should have an echocardiogram (a harmless ultrasound picture of the heart and big blood vessels)

Skeletal
Scoliosis (curvature in the upper thoracic spine) or kyphosis (forward bending curvature in the spine) and possibly loose painful joints.

Eyes
Myopia (shortsightedness), dislocation of the ocular lens, retinal detachment, glaucoma.

Lungs
Pneumothorax (collapse of lung due to air leaking from the lungs into the chest cavity), bronchiectasis and emphysema.

Each family has different manifestations.

View Background Background  |  What are the causes? View What are the causes?

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated July 2002 by Dr M Briggs, Occupational Health Physician, Hove, UK.

 

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