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Pediatric Marfan Syndrome

Children with Marfan syndrome need lifelong care from multiple specialists. Children’s Health is the only pediatric medical center in northwest Texas recognized by the Marfan Foundation for comprehensive care of Marfan syndrome. We provide dedicated and coordinated services for all your child’s medical needs.

What is Pediatric Marfan Syndrome?

Children with Marfan syndrome, a connective tissue disorder, are at risk for serious heart and blood vessel complications. The condition can also affect bones, teeth, vision and breathing.

Marfan syndrome is a disorder that affects the proteins that make up the body’s connective tissues. These tissues support a child’s blood vessels, heart, eyes, bones including the spine, lungs and muscles.

Almost all children with Marfan syndrome have complications that affect the heart and the aorta, one of the heart’s main blood vessels. Without proper treatment, these conditions can be life-threatening. They include:

  • Dilated (enlarged) aorta (aneurysm) that can tear or rupture if it becomes too big (aortic dissection).
  • Leaky heart valves that allow blood to flow backward into the heart

A child with Marfan syndrome is also at risk for developing other complications, including:

  • Scoliosis (spine curvature) and bones that don’t form properly
  • Eye problems like dislocated lenses, tears in the retina and glaucoma
  • Lung diseases such as emphysema

What are the signs and symptoms of Pediatric Marfan Syndrome?

  • Arms, fingers, legs and head that are longer than usual
  • Crowding of the teeth
  • Curved spine (scoliosis)
  • Flat feet
  • Heart murmur (unusual heart sound)
  • Poor vision
  • Chest that caves in or sticks out
  • Stretch marks on the lower back, butt, hips or shoulders
  • Unusually flexible joints

How is Pediatric Marfan Syndrome diagnosed?

Marfan syndrome can be challenging to diagnose because symptoms vary from person to person. That’s why it’s important to see specialists who regularly help children with Marfan syndrome.

We’ll conduct a physical examination and assess your child’s physical features and symptoms. We’ll also review your family’s medical history.

Your child may also get these tests:

If tests suggest Marfan syndrome, blood tests are performed to look for the gene change that causes the condition.

What causes Pediatric Marfan Syndrome?

A change to the DNA, or makeup, of the fibrillin-1 (FBN1) gene causes Marfan syndrome. As a result of this gene change, the chemicals in connective tissue are not regulated properly.

Some children inherit this genetic change. A parent with Marfan syndrome has a 50% chance of passing this changed gene to a child. About 1 in 4 people with Marfan syndrome develop the condition randomly for unknown reasons.

How is Pediatric Marfan Syndrome treated?

Specialists at The Heart Center treat heart and blood vessel conditions related to Marfan syndrome. The main concern is a dilated (expanded) aorta. Our dedicated Pediatric Dilated Aorta Caused by Connective Tissue Disorders Program helps manage this condition while decreasing the chances of a potentially life-threatening aortic tear.

We monitor your child’s heart health and perform surgery to repair or replace part of the aorta when needed. We also fix leaky heart valves and prescribe medications to protect your child’s heart.

Because Marfan syndrome can affect various parts of the body, your child sees a team of specialists at Children’s Health℠. These experts provide treatments and perform surgeries for conditions that affect the spine, bones and eyes.

Pediatric Marfan Syndrome Doctors and Providers

Frequently Asked Questions

  • How common is Marfan syndrome?

    Marfan syndrome is a rare condition that affects approximately 1 in 5,000 people worldwide.

  • Who is at risk for Marfan syndrome?

    A child has a higher risk of having Marfan syndrome if a parent has the condition. But anyone can get Marfan syndrome. It affects boys and girls equally.

  • Can Marfan syndrome develop later in life?

    A baby is born with the gene change that causes Marfan syndrome. But some people don’t find out they have the condition until signs and symptoms become noticeable during childhood or later.

  • Does Marfan syndrome get worse with age?

    Many of the conditions found in patients with Marfan syndrome become apparent as a child becomes a teenager. Some complications, like glaucoma and heart issues, may not be seen until adulthood. Lifelong monitoring by various doctors can help identify (or diagnose) these complications promptly.

  • What is the prognosis for children with Marfan syndrome?

    A child with Marfan syndrome who receives the correct medical care early in life can expect to live a full life just like their peers who don’t have the condition. Because health concerns from Marfan syndrome can develop for the first time at any age, your child needs to see our heart doctors and other specialists as they grow up. We help your child grow and thrive. Your child should continue to see doctors regularly throughout adulthood.