What is Marfan syndrome? Marfan syndrome is a rare hereditary
disorder of connective tissue that results in an individual
being very tall and having long arms and legs. About 1 in 5,000
babies are born with this disorder. These children often have
curvature of the spine, an unusually shaped breastbone, and
excessive flexibility, and may develop vision problems. These
features result from having weak connective tissues in the body.
What causes Marfan syndrome? Marfan syndrome is caused by a
mutation to a gene on chromosome 15. This gene controls the
making of the protein fibrillin, which provides structural
support for many tissues in the body. What heart conditions may
be associated with Marfan syndrome? The syndrome affects a
number of parts of the body, particularly the heart, in about
60% to 80% of children with Marfan syndrome. Heart conditions
may include mitral valve prolapse and enlargement of the aorta.
An echocardiogram is necessary to make a diagnosis of Marfan
syndrome. Regular echocardiograms are