Marfan syndrome

Marfan syndrome is a condition that affects the body’s connective tissue. Connective tissue is what supports the structures of the body including the heart, bones, blood vessels and muscles.

What causes it?

For 3 out of 4 people with Marfan syndrome, the cause is genetic ie it is caused by a defective gene that children inherit from one or both parents. For the remaining 1 out of 4 people, it is caused by a spontaneous mutation of the gene.

Is it serious?

Yes, it can lead to heart, eye, and lung complications. Effects on the heart and blood vessels can be life-threatening. Marfan syndrome can cause life-threatening complications during pregnancy.

Can I prevent it?

There is no way to prevent Marfan syndrome, but if you have a family history, you may want to meet with a genetic counsellor before becoming pregnant. Additionally, if you have Marfan syndrome and wish to become pregnant, you should discuss the health risks with your doctor.

How do I know if my child has Marfan syndrome?

The symptoms can range from mild to severe and often vary greatly from person to person. Symptoms can include:

  • Long, narrow face
  • Proportionately small lower jaw and narrow, highly arched palate
  • Usually, tall lean stature with disproportionate long arms and legs
  • Thin, long fingers and toes (arachnodactyly)
  • Sunken or protruding chest
  • Loose, flexible joints, often prone to dislocation
  • Scoliosis (spinal curvature)
  • Visual problems
  • Enlarged aorta
  • Mitral valve prolapse
  • Stretch marks
  • Pneumothorax – spontaneous collapse of the lung
  • Dural ectasia – enlargement of the outer membrane around the brain and spinal cord

How do I treat Marfan syndrome?

Marfan syndrome is not curable. Managing the disorder concentrates on keeping the heart and spine healthy. As your child grows, she will need to have her spine regularly monitored to ensure healthy growth. She will also need regular heart assessments.

Should I call the doctor?

Your doctor will need to perform several tests in order to make a diagnosis of Marfan syndrome. Genetic testing is the most helpful because the symptoms of Marfan syndrome can be the same as other disorders and diseases that affect connective tissue.

What you need to know about Marfan syndrome

  • Marfan syndrome is a genetic disorder that affects connective tissue.
  • Kids with Marfan syndrome have an increased risk of heart disease and scoliosis.
  • Treatment for Marfan syndrome concentrates on monitoring the heart and spine.

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