Chromosomal and Genetic Conditions

Marfan Syndrome Symptoms and Diagnosis

Symptoms of Marfan Syndrome

The symptoms of Marfan syndrome may vary greatly, even among children in the same family. Symptoms can range from mild to severe.

Some children have no symptoms early in life. But as they grow, they develop common Marfan symptoms and traits.


If you have a family history of Marfan syndrome, tell your doctors this when you are pregnant so they can check your newborn closely for signs of the condition.

Newborns who have signs of Marfan may have more serious heart problems than children diagnosed at an older age.

They may also have any of these problems:

  • Mitral valve prolapse (valves are "floppy" and don't close right)
  • Blood that leaks backward through a heart valve (regurgitation)
  • Breathing problems


In children up to age 12, the most common symptoms are with the bones in their body (skeletal system). Your child may have these traits:

  • Tall and thin frame
  • Long, slender fingers, thumb and toes
  • Breastbone that caves inward or pushes forward
  • Loose joints
  • Scoliosis  
  • Flat feet
  • Vision problems


Many of the traits of Marfan syndrome may be quite mild early in life and become more noticeable as your child grows. So your child may not be diagnosed with Marfan syndrome until their teenage years.

Along with the common traits listed above, your doctor will be looking for these signs and symptoms in your teen:

Marfan Syndrome Diagnosis

To diagnose this condition, your doctor will do a complete exam, checking your child for the physical traits of Marfan syndrome.

The doctor will ask about your child's health history and your family's health history.

Your child will need an echocardiogram test so the doctor can see how their heart works.

An eye doctor (ophthalmologist) will check your child for any vision problems.

Early diagnosis is important to your child's future health. When Marfan is diagnosed early, your doctor can watch your child for problems that may require treatment. This may help prevent complications.

If one of your children has Marfan syndrome, your doctor may suggest doing genetic tests to see if one of their parents or a sister or brother has the condition.

Contact Us

Contact the Heart Center at 206-987-2015 for a cardiac referral, a second opinion or more information.