Marfan Syndrome

What are some Marfan syndrome symptoms?

There can be many Marfan syndrome signs and symptoms because the condition affects many different types of tissue within the body. The most noticeable sign is abnormal body proportions. Children with Marfan syndrome can have noticeably longer arms, legs, fingers and toes.

Other Marfan syndrome signs to look for are:

• Scoliosis (a curve of the spine to one side of the body)
• Crowded teeth and a small, very high, arched roof of the mouth
• Flat feet without a typical arch
• Pectus Carinatum (a chest that sticks out) or pectus excavatum (a chest that caves in at the center)
• Eye conditions such as nearsightedness and lens dislocation
• Pneumothorax (collapsed lung)

How do doctors diagnose Marfan syndrome?

If your child's doctor suspects Marfan syndrome might be causing some of your child's medical conditions, they will likely order more tests to be sure. Fibrillin-1 genetic testing can tell the doctor if your child has the gene change that causes Marfan syndrome 95% of the time.

There are conditions similar to Marfan syndrome with important differences. Genetic testing is vital to ensure the correct diagnosis and to create the best care plan. Our cardiology team uniquely integrates genetic counseling and clinical genetics services. We also offer exome and genome sequencing for challenging diagnostic cases and provide precision medicine programs.

Your child's cardiologist will perform an echocardiogram (ECHO) to examine the structure and function of the heart and the heart valves. This test also gives the doctor information about the size of your child's aorta, the artery that carries oxygen-rich blood from the heart to the rest of the body.

Marfan syndrome treatment at Children's Hospital Colorado

While there is no cure for Marfan syndrome, it is possible to treat nearly all related symptoms. With modern treatments, the life expectancy for people with Marfan syndrome is near normal and most children with the condition live healthy lives.

Marfan syndrome treatments for all of your child's symptoms

At Children's Colorado, our specialty doctors will help your child manage their symptoms. Our ophthalmologists can treat any eye complications your child may develop due to Marfan syndrome. Our Orthopedics Institute can help your child with skeletal complications, such as scoliosis, a curvature of the spine.

At our Heart Institute, we can monitor and treat any weakening of the aorta, the most significant issue that affects children with Marfan syndrome. Our cardiologists use medication to decrease the stress placed on the aorta. In some cases, our cardiothoracic surgeons may recommend surgery to replace a significantly weakened aorta. Our surgical staff also repairs leaky heart valves associated with the condition. With a high-volume aortopathy program offering full-service, multidisciplinary genetics and cardiology care, we can ensure that patients receive expert care for other needs.

Learn more about our Marfan Syndrome and Aortopathy Clinic for the treatment of this condition.

• The National Marfan Foundation works to help save and improve the lives of those with Marfan syndrome through research grant programs advocating for government-funded research and sharing knowledge about Marfan syndrome and related conditions through conferences, symposia and partnerships with governmental agencies and other health organizations.
• The American Heart Association fights heart disease and stroke through funding research, sharing knowledge and advocating for those battling heart disease and their families.