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Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. marfan_general_2.jpg What is Marfan Syndrome?Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related disorders. Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.
A ventricular septal defect (VSD) is an opening or hole in the wall that separates the two lower chambers of the heart. This wall is called the ventricular septum. The hole causes oxygen-rich blood to leak from the left side of the heart to the right side. This causes extra work for the right side of the heart, since more blood than necessary is flowing through the right ventricle to the lungs. The hole is usually closed with surgery. However, in certain situations, your child's cardiologist and surgeon may think it is best to close the hole with a special device. This procedure is done in the heart catheterization lab.
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