Jeremy+S.

Marfan Syndrome Cause: It is caused by a mutation in a gene that tells the body how to make fibrillin Fibrillin- a protein that is important part of connective tissue The defect causes an increase in a protein called transforming growth factor beta or **TGFB.** The increase of TGFB causes problems throughout the body which is the cause of all the Marfan syndrome features. People can inherit Marfan syndrome from their parents. The parents have a 50% chance of passing it on. People born with Marfan syndrome won’t notice it until later in life. Features: Cardiovascular System ·  Enlarged aorta ·  The layers of the aorta separate causing it to tear Bones and Joints ·   Long arms and legs ·  Tall and thin ·  Spine curvature ·  The chest sinks in or sticks out ·  Thin long fingers ·  Flexible Joints ·  Flat feet ·  Crowded teeth Ocular System (eyes) ·  Detached Retina ·  Early Cataracts ·  Early glaucoma Testing for Marfan syndrome ·  Echocardiogram- looks at the heart and the aorta ·  Electrocardiogram- this test checks the heart rate and rhythm ·  Slit lamp eye exam- Doctor looks for dislocated lenses in your eyes