Marfan Syndrome and Other Connective Tissue Disorders

Your body’s connective tissues bind and support important structures like cells and organs. These tissues break down over time in people with Marfan syndrome and similar disorders. This can lead to damage in vital organs and other structures.

Two of the most dangerous complications are aortic aneurysm and aortic dissection. An aortic aneurysm results when one of the body’s main blood vessels, the aorta, becomes weak and enlarged. Eventually, the aorta can tear or dissect, which is life-threatening.

Marfan, Loeys-Dietz, Ehlers-Danlos syndrome and the more severe Vascular Ehlers-Danlos syndrome, and other connective tissue disorders are congenital, meaning they are present from birth. Many people have a mix of common physical characteristics, including being very tall and having long limbs and fingers, crowded teeth, and flat feet. However, not everyone has these signs, and many people do not experience symptoms and/or are not diagnosed until later in life.

While these disorders are not curable, there are many ways you can optimize your health.

Genetic Counseling
Most people inherit Marfan syndrome from a parent, but about 25% of people are the first person in their family to have the disorder. Genetic testing and counseling can help you understand how a Marfan or CTD diagnosis could affect your children.

Regular Health Monitoring
Your care team will create a customized, lifelong monitoring plan for you. You may undergo routine imaging scans and attend regular doctor appointments to reduce the risk of potential complications.

Lifestyle Changes and Physical Restrictions
In addition to maintaining healthy habits like following a nutritious diet and getting enough sleep, your doctor may recommend that you stick to low-impact and low-intensity exercise options like walking or swimming. Contact sports and certain physical activities that put too much strain on your heart could be dangerous.

Medications
If it is determined that your aorta is enlarged or is at risk of enlargement, you may be prescribed medications that lower blood pressure to reduce your risk of aortic aneurysm and dissection.

Vision Correction
Ophthalmologists may prescribe glasses or contact lenses if you have vision problems due to Marfan syndrome or another CTD.

Scoliosis Care
Scoliosis may need to be addressed with physical therapy, bracing, or other treatments.

Surgical Expertise and Developing Best Practices 
Duke performs a large number of CTD-related surgeries with positive outcomes. It’s important to seek care at a center like Duke, which has experienced providers who can anticipate and solve problems that may arise during or after complex aortic operations. We use our robust research infrastructure to determine best practices and look for ways to improve surgical outcomes.

Team Approach to Marfan and CTD Care
Our experienced care team creates a personalized, long-term plan to monitor your individual symptoms and condition. We are your doctors for life. Our experts include cardiologists, geneticists, orthopaedists, ophthalmologists, neurologists, surgeons, and other specialists who can detect and help prevent serious complications.

Clinical Trial Access
Our doctors participate in clinical trials that are researching new or improved therapies for people with connective tissue disorders. As a Duke patient participating in clinical trials, you may have access to new therapies that are not widely available.

Pediatric to Adult Care
Because Marfan syndrome and other CTDs are present from birth, both children and adults require specialized care. Our pediatric and adult Marfan/CTD experts work together closely to ensure your child’s transition to adult care is smooth.

Community Support
Duke providers are longtime members of The Marfan Foundation, a national nonprofit organization dedicated to improving the lives of people with genetic aortic and vascular conditions. Each year, Duke Health sponsors the North Carolina Walk for Victory, an annual event to raise awareness and research funds for Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.