Marfan syndrome and congenital heart conditions

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Marfan syndrome is a rare hereditary disorder of connective tissue. About 60% to 80% of people with this syndrome have heart problems.

Key points

  • Marfan syndrome is a rare disorder caused by a mutation to a gene on chromosome 15 that results in weak connective tissues.
  • Children with Marfan syndrome develop physical problems but can lead healthy, normal lives.
  • Children with Marfan syndrome often experience heart problems and will need to be monitored regularly.

Children with Marfan syndrome, a rare disorder of connective tissue, often have heart conditions.

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 often needed to monitor the size and function of the heart and aorta. Later in life, many people with Marfan syndrome develop so much enlargement of the aorta that they may need open heart surgery to replace the aortic root. Before then, drugs called beta blockers are used to slow down the heart rate and reduce damage to the aorta.

What is the long-term outlook for children with Marfan syndrome?

With monitoring and treatment, the lifespan is normal and the outlook positive for people with Marfan syndrome. Their main challenges are the physical problems described above. Children with Marfan syndrome generally lead full, normal lives, with the adequate monitoring and management of symptoms.

For more information about Marfan syndrome, please ask to be referred to a genetic counsellor.

Last updated: December 14th 2009