Marfan Syndrome

Our pediatric heart, bone, eye, and genetic specialists diagnose and treat children and adults with MFS and connective tissue conditions.

Marfan syndrome (MFS) is a genetic condition that may affect a child’s heart. While there is no cure, we have several ways we monitor and treat MFS.

Through our Marfan Syndrome Clinic, we diagnose and treat children and adults with MFS. Since MFS can affect many systems of the body, we’ve brought together leading specialists in genetics and cardiology. Your family can get everything you need in one place, whether that means a consultation or treating a related condition.

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What Is Marfan Syndrome (MFS)?

Marfan syndrome is a connective tissue disorder that affects about 1 in 5,000 people. It can appear at any age, although it usually becomes noticeable during adolescence.

People with MFS are often very tall, thin and loose-jointed. Many have heart and blood vessel issues, such as a weakness in the aorta or leaky heart valves. Marfan can cause problems with the bones, eyes, skin, nervous system or lungs.

How We Care for Children With Marfan Syndrome

We have a special interest in caring for children and adults with Marfan, and we’ve brought resources together to provide a range of treatments. We offer:

  • Dedicated Marfan clinic: Our clinic is a joint partnership between Joe DiMaggio Children’s Hospital and Memorial Regional Hospital. We’ve brought together specialists from both genetics and cardiology to diagnose, evaluate and treat children and adults with MFS.
  • Team of specialists: Because Marfan affects several systems of the body, you may need to see several different doctors. We make it easy for families to meet with many specialists in one place, including cardiac and thoracic surgeons and ophthalmologists.
  • Personalized treatment: We perform a comprehensive genetic and cardiology evaluation on each patient. This includes an echocardiogram, a noninvasive heart imaging test that uses ultrasound waves to create images of the heart. While there is no cure for Marfan, we aim to minimize and prevent complications. Your treatment plan may include:
    • Annual skeletal evaluations to identify any changes in your spine or sternum (chest)
    • Frequent eye exams to detect any vision problems
    • Evaluating heart and blood vessels to scan for aneurysms (weaknesses in a blood vessel wall). If we find an aneurysm, we can formulate a treatment plan.

If you are interested in joining a local support group, please visit The Marfan Foundation.

Call us for more information or to schedule an appointment


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