Pediatric Marfan syndrome (MFS)

What is pediatric Marfan syndrome (MFS)?

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

Pediatric Marfan syndrome (MFS) was origionally called "dolichostenomely" (Greek for "narrow limb") and "pattes d'araignée" ("spider's legs") by French pediatrician Antoine-Bernard Marfan. It wasn't until 1931 when the condition was called Marfan's syndrome.

What are the signs and symptoms of pediatric Marfan syndrome (MFS)?

• Arms, fingers, legs and head that are longer than usual

• Crowding of the teeth

• Curved spine or 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 (MFS) 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:

• Cardiac imaging

• Echocardiogram

• Electrocardiogram - to assess the health of the heart and blood vessels

• Pediatric Ophthalmology - eye examinations to check for vision problems

• Imaging tests including:

  • CT scan

  • MRI

• Andrews Institute Spine Center - to look for spine problems like scoliosis

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

What causes pediatric Marfan syndrome (MFS)?

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 (MFS) 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.