Pediatric Marfan syndrome

Marfan syndrome may cause problems with the heart and blood vessels, in addition to affecting a child’s growth and other organs. Our board-certified pediatric cardiologists have the training and experience to help your family manage heart-related complications of pediatric Marfan syndrome.

What is Marfan syndrome?

Marfan syndrome is a disorder that affects connective tissue. Connective tissue is like a stiff glue that gives strength and structure to other tissue and many organs, including the heart. Marfan syndrome can affect the heart valves and major blood vessels which may result in serious complications.

Marfan syndrome weakens arteries, potentially leading to tears or ruptures. The condition can ultimately lead to severe events that could be life threatening, so early identification and treatment are essential.

What causes Marfan syndrome in children?

Marfan syndrome is caused by a mutation, or change, to a gene called FBN1. In most cases, these changes are inherited or passed down from a parent. Sometimes the changes happen randomly on their own as sperm or egg cells form, or as embryos develop. In either case, Marfan syndrome is a condition present at birth.

Marfan syndrome symptoms

Marfan syndrome is sometimes diagnosed when a child is born, but more commonly as a child grows and develops. Some are not noted to have Marfan syndrome until they are adults. Each person with Marfan syndrome has different physical characteristics, even within the same family. Because the indicators can vary so much, identifying this condition may be challenging.

Some features of Marfan syndrome are more obvious, such as:

• Long face and limbs
• Tall and slender body
• Caved chest
• Curved spine
• Flat feet

Other effects are often harder to identify and require medical expertise, such as:

• Enlarged aorta, the main artery supplying blood to the body
• Eye problems

Marfan syndrome diagnosis

Our team of cardiologists has the experience to help identify early signs of Marfan syndrome. We ask about your child’s health history and run a variety of tests, including:

• Echocardiogram
• Electrocardiography
• Genetic testing
• Heart MRI or CT

Pediatric Marfan syndrome treatment at Advocate Children’s Hospital

Currently, Marfan syndrome has no cure, though treatment can help your child feel better and reduce the risk of serious complications. In addition to cardiac care, we provide a diverse team of specialists to treat all features of Marfan syndrome.

To treat heart problems related to Marfan syndrome, our pediatric cardiologists and surgeons help manage the condition with:

• Medications: Certain medications, including beta blockers and angiotensin receptor blockers, have been shown to lower the chance of serious heart problems from Marfan syndrome. You can expect the dose to start small and increase as your child ages.
• Surgery: Children with particularly weakened heart valves or blood vessels may need heart surgery. When possible, we try to plan for such treatment ahead of time, but some children may need emergency care. Our surgeons are experts in replacing heart valves and repairing blood vessels, the most common heart problems related to Marfan syndrome. We perform thousands of heart surgeries each year with excellent results.