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:
Cardiac imaging tests, such as echocardiogram and electrocardiogram, to assess the health of the heart and blood vessels
Eye examinations with our Pediatric Ophthalmology Department to check for vision problems
Imaging tests like a CT scan or MRI with our Andrews Institute Spine Center to look for spine problems like scoliosis
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
