By Sarah Jurgensmeyer, Angelique Mercier, and Vera Shively, Lurie Children's Division of Genetics, Birth Defects and Metabolism
A high school student athlete was excited to get the season underway but had to get their required sports physical before the first practice. During their exam the doctor noted several physical features that alerted her to the possibility that the student could have a connective tissue disorder called Marfan syndrome.
Connective tissue is found throughout the body and is important for growth and development. It supports, protects, and gives structure to our tissues and organs, including the skeleton, skin, lungs, eyes, heart, and blood vessels. Connective tissue disorders (CTDs) are a group of more than 200 conditions. CTDs affect many organ systems because connective tissue is found throughout the body.
Marfan syndrome is one of the CTDs and is caused by genetic changes (sometimes called “mutations”) in the FBN1 gene. FBN1 has instructions for our body’s cells to make a protein called fibrillin, a key part of connective tissue. In Marfan syndrome, the body’s cells produce too little fibrillin or fibrillin that does not work as it should. As a result, the connective tissue is weakened, leading to signs and symptoms associated with the disorder, which may include:
The aorta is the largest blood vessel in the body and carries oxygen-rich blood from the heart to be circulated through the rest of the body. The connective tissue in the wall of the aorta must withstand constant blood flow at high pressure. In someone with Marfan syndrome, the weakened connective tissue of the aorta leaves it susceptible to enlargement (aneurysm), tearing of the inner layer of the aortic wall (dissection) and rupture. This can be life-threatening. Thus, when Marfan syndrome is suspected, it is critical to verify the diagnosis with healthcare providers who are familiar with the condition, such as the team in the Connective Tissue Disorders Program at Lurie Children’s.
Since Marfan syndrome affects multiple body systems, patients are followed by a team of healthcare providers at Lurie Children’s who monitor and treat the different health concerns associated with the condition. This includes specialists in cardiology, ophthalmology, orthopedics, genetics, and others as needed. Patients are often seen annually unless more frequent follow-up is advised. Imaging tests of the aorta and heart are done on a regular basis for monitoring.
Although there is no cure for the condition, Marfan syndrome can be managed. Several types of drugs that reduce blood pressure may be used to help slow enlargement of the aorta. If heart valve abnormalities are found, antibiotics may be prescribed around the time of surgical or dental procedures to prevent infections within the heart (endocarditis).
A diagnosis of Marfan syndrome can impact the type and intensity of sports and activities that a person can do safely. Any athlete suspected of having Marfan syndrome should be referred to a specialist for further evaluation of the diagnosis. The Marfan Foundation published new physical activity guidelines - a comprehensive resource for remaining active with Marfan syndrome. Since every case is unique, patients with Marfan syndrome should talk with their healthcare team before starting a sport or activity.
The Connective Tissue Disorders Program at Lurie Children’s includes evaluations with genetic specialists, including genetic counselors. Results from a physical exam, combined with medical and family history, will guide if genetic testing is recommended. Genetic testing can be an important tool in diagnosing a suspected CTD. A genetic counselor will explain types of testing, possible results, and how the process works. Genetic testing requires a DNA sample, usually from a blood draw. Your genetic counselor will typically call you to discuss the results and next steps for your care. For someone diagnosed with a CTD through genetic testing, there may be recommendations for testing other family members. Our CTD Program specialists follow patients to make sure care needs and medical management recommendations are being met. We review testing results with patients from childhood to teenage years to discuss the diagnosis in age-appropriate terms and assist with transition planning for adult care.