Marfan Syndrome and Other Connective Tissue Disorders

Care for Adults and Children

For More Information 855-855-6484

An early diagnosis and comprehensive, expert medical care can be lifesaving for people with connective tissue disorders (CTDs) like Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome. Because these congenital conditions can affect the heart, brain, eyes, lungs, bones, and other body systems, it is important to seek care from a team of providers who specialize in treating connective tissue disorders. 

Duke specialists in cardiology, surgery, ophthalmology, pulmonology, orthopaedics, neurology, genetics, and more work together to prevent and treat serious complications like aortic aneurysms, collapsed lungs, and vision problems. Our Marfan/CTD care team is experienced in treating both children and adults. 

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About Marfan Syndrome and Related 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, 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.

Our Locations

Duke Health offers locations throughout the Triangle. Find one near you.

Tests for Marfan Syndrome and Other Connective Tissue Disorders

There are two main ways to diagnose Marfan syndrome and other connective tissue disorders: a comprehensive evaluation and genetic testing. To make a definitive diagnosis, your doctors will use established criteria and your test results.

Comprehensive Evaluation

Because connective tissue disorders are hereditary, your doctor will take time to understand your family history. You’ll undergo a detailed physical exam to look for common physical signs. Simple tests, like measuring your arm span, can be done in your doctor’s office. Your doctor may also refer you for an eye exam or imaging tests like an echocardiogram, a CT scan, or an MRI.

Genetic Testing

Marfan, Loeys-Dietz, and related disorders are caused by a genetic mutation. Blood tests can detect these mutations. Genetic testing may be performed to confirm a diagnosis.

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Managing Marfan Syndrome and Other Connective Tissue Disorders

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 Treatments

While not everyone will need surgery, one or more of the following procedures may be recommended if your doctors determine that you or your child could benefit. Children with Marfan syndrome or other CTDs usually don’t need surgery until they are at least teenagers.

Heart Surgeries

These highly specialized operations are performed by skilled heart surgeons with expertise in aortic repair.

  • Valve-Sparing Aortic Root Replacement
    When the root of the aorta -- where the aorta attaches to the heart -- is enlarged, it can tear and lead to an aortic dissection. The goal of a valve-sparing aortic root replacement is to eliminate the need for valve replacement surgery and the risk of aortic dissection by repairing the aortic root aneurysm. Artificial valves carry risks like infection, valve degeneration, and stroke and may require that you take blood-thinning medications for life.
  • Aortic Repair
    If a dangerous aneurysm develops in other parts of your aorta, it may need to be repaired through surgery to prevent an aortic dissection or rupture. During an aortic repair, a heart surgeon replaces the damaged part of your aorta with a Dacron tube or stent graft. Certain aortic repair surgeries can be performed with minimally invasive techniques. These techniques reduce your time in the hospital, carry less risk of bleeding and infection, and help you recover faster.
  • Valve Replacement
    Your heart’s mitral and aortic valves can wear out faster than someone without a connective tissue disorder. A heart surgeon can replace your damaged heart valve with a mechanical one made from carbon or with a valve made from animal tissue. We educate you on the pros and cons of each type and work with you to determine which option is best for you.

Other Surgeries

Severe scoliosis, breastbone abnormalities, or eye problems like retinal detachment or cataracts may also require surgery.

Duke patient creating documentary about Marfan syndrome to raise awareness

Best Heart Hospital in North Carolina

When it comes to your heart care, you want the very best. Duke University Hospital is proud of our team and the exceptional care they provide. They are why our cardiology and heart surgery program is nationally ranked, and the highest-ranked program in North Carolina, according to U.S. News & World Report for 2023–2024.

Why Choose Duke

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.

This page was medically reviewed on 01/05/2024 by