Thanks to earlier diagnosis, advances in medical care, and improved treatment options, people with Marfan syndrome and related conditions are living longer than ever before. At the same time, researchers are learning more about how everyday lifestyle choices can support healthier living. From exercise and nutrition to sleep and weight management, there are many ways people living with genetic aortic and vascular conditions can take an active role in optimizing their physical health.
There are practical, evidence-based strategies to help optimize physical health at every stage of life. To help our community better understand them, we spoke with Mary Sheppard, MD, a physician and researcher who also lives with Marfan syndrome.
Dr. Sheppard is Assistant Professor of Medicine and Co-Associate Director of the Saha Aortic Center at the University of Kentucky. She also helped develop the Marfan Foundation’s updated physical activity and exercise resource, bringing both her clinical expertise and personal experience to this important work.
In this conversation, she discusses how people with connective tissue conditions can optimize their physical health, why everyday choices matter, and how partnering with their healthcare teams can support long-term well-being.
When thinking about healthy aging with a connective tissue condition, what should people consider?
I like to remind people that health is much more than simply the absence of disease. The World Health Organization defines health as complete physical, mental, and social well-being. That broader definition is especially important for people living with Marfan syndrome and related conditions because there are many aspects of health we can work on to optimize throughout life.
For day-to-day living, we look to the American Heart Association’s “Life’s Essential 8,” which provides a practical, evidence-based roadmap for cardiovascular health. It tells us that healthy eating, physical activity, tobacco avoidance, healthy sleep, healthy body weight, cholesterol management, blood sugar control, and blood pressure optimization are interconnected and contribute to overall health.
Physical activity recommendations for people with connective tissue conditions have changed. What should people know today?
One of the biggest messages is that physical activity is encouraged. Current guidance from organizations such as the American Heart Association, the European Society of Cardiology, and the Marfan Foundation emphasizes regular, low- to moderate-intensity aerobic exercise. Read the Foundation’s physical activity and exercise resource at Marfan.org/PhysicalActivity.
A simple way to judge the right intensity is the “conversation test.” If you can comfortably carry on a conversation while exercising, you’re generally in the appropriate range. The goal is to maintain cardiovascular fitness safely over the long term. Many people assume they need to push themselves harder to gain benefits from exercise. In reality, the goal is consistency, not maximum intensity.
Research suggests exercise may actually benefit the aorta. Can you explain that?
Research in mouse models of Marfan syndrome has shown that moderate intensity aerobic exercise improved aortic structure and function. While we cannot assume animal studies will produce identical results in people, these findings are encouraging.
If future research confirms similar effects in humans, regular safe physical activity could potentially help condition the aorta and improve its ability to tolerate the normal stresses of everyday life. That possibility makes continuing this research especially exciting.
What should people know about nutrition and weight management?
As people with Marfan syndrome and related conditions age, we’re learning more about changes in body composition and metabolism. Research suggests that body composition and metabolism may change as people with Marfan syndrome age. Studies show that increased central fat accumulation and excess weight can place additional mechanical stress on joints while also affecting overall metabolic health.
We also know from animal studies that high-fat diets can contribute to poorer metabolic outcomes in males with Marfan syndrome, including changes in cholesterol and blood sugar. While we continue to learn more, maintaining a heart-healthy eating pattern and a healthy body weight remains an important part of overall health. As interest grows in newer approaches to weight management, including GLP-1 medications, it’s important for patients to have personalized conversations with their healthcare team. (Read the Q&A with Dr. Sheppard, GLP-1 Medications: What Patients Should Know.)
Many people still think of Marfan syndrome as a condition where everyone is naturally thin. Is that an accurate picture today?
That’s a common perception, but it doesn’t tell the whole story. As people with Marfan syndrome age, we’re learning that body composition can change over time. Some research suggests that individuals with Marfan syndrome may develop increased central adiposity, or the accumulation of fat around the abdomen, which does not necessarily fit the traditional image many people associate with the condition. Researchers are studying these changes in fat quantity and distribution, known as lipodystrophy, that may occur in some individuals.
These changes matter because excess weight can place additional stress on the joints, affect overall metabolic health, and contribute to cardiovascular risk. That’s one reason maintaining a healthy lifestyle through nutritious eating and regular physical activity is important throughout life.
Can people with connective tissue conditions experience problems with sleep?
People with connective tissue conditions can experience sleep issues like the general population. Several studies suggest that people with connective tissue conditions, such as Marfan syndrome, have an increased incidence of obstructive sleep apnea (OSA). This is possibly due to joint laxity and/or structural differences in the shape of the palate, chin, and trachea. OSA is a risk factor for the development of hypertension in the general population; therefore, untreated OSA might even worsen cardiovascular outcomes for people with Marfan syndrome. Obstructive sleep apnea is more common than many people realize and can go undiagnosed, especially in people with connective tissue conditions who usually do not have the risk factors that would alert a physician to do testing.
People who have symptoms such as loud snoring, excessive daytime sleepiness, or witnessed pauses in breathing during sleep should discuss screening with their healthcare professional. Identifying and treating sleep apnea is another way we can optimize overall health. Your healthcare professional can help determine whether sleep apnea screening is appropriate.
Why are healthy levels of blood pressure, cholesterol, and blood sugar important?
These factors matter for everyone, including people with genetic aortic and vascular conditions. Keeping blood pressure, cholesterol, and blood sugar within recommended ranges supports cardiovascular health and should remain part of routine medical care throughout adulthood. The healthier these risk factors are, the healthier the cardiovascular system is likely to be overall.
In addition to healthy habits, where do medications fit into long-term care?
Healthy lifestyle choices and prescribed medications work together. Regular exercise, nutritious eating, healthy sleep, and maintaining a healthy weight are all important ways to optimize overall health, but they don’t replace therapies that have already been shown to benefit people with Marfan syndrome and related conditions.
One of the best examples is angiotensin receptor blockers (ARBs) and beta-blockers. Meta-analyses of randomized clinical trials have shown that ARBs and beta-blockers can slow the rate of aortic enlargement in people with Marfan syndrome. While researchers are still working to understand exactly how these medications provide that benefit, we know they are an important part of treatment. That’s why one of my most important messages is simple: If your physician has prescribed medication, take it every day. Please do not stop taking either medicine abruptly without discussing it with your physician. Abrupt cessation might cause avoidable risk. For example, sudden discontinuation of beta-blockers can cause a reflex increase in your heart rate. Therefore, it is safer to gradually decrease the dose.
Overall, healthy aging isn’t a choice between lifestyle and medication. It’s about combining both to give yourself the best opportunity for better health over the long term.
What areas of research are you most excited about right now?
I feel most excited about research that has the potential to improve quality of life for people with Marfan syndrome and related conditions as soon as possible. Of course, this includes aortic disease. I am especially interested in whether medications traditionally used to lower cholesterol may also help the aorta. Studies in mice have suggested that pravastatin and atorvastatin may have beneficial effects on the aorta in Marfan syndrome. My laboratory has been conducting NIH-funded research to better understand whether and how those findings may translate to people with Marfan syndrome.
I am also excited about research studies that enable patients with aortic disease to be more active. It is relatively novel that certain types of exercise might improve aortic outcomes in people with connective tissue conditions, but it has been well-accepted that exercise improves musculoskeletal function. The Marfan Foundation recently funded us to study the ways in which musculoskeletal function contributes to early-onset hip osteoarthritis in Marfan syndrome. I would love to discover specific exercises that prevent development of hip pain in my patients as they age.
While recent findings are encouraging, more research is needed before they can change clinical practice. That’s why ongoing research remains so important. Every study helps us better understand how we can continue to improve care and long-term outcomes for people living with Marfan syndrome and related conditions.
What is a key takeaway you would like people to know?
Healthy aging is built on everyday habits. Nutrition, exercise, sleep, medication adherence, and maintaining lower-extremity strength to help stabilize joints all work together to support long-term health and quality of life.
Read the Q&A with Dr. Sheppard: GLP-1 Medications: What Patients Should Know
The Marfan Foundation drives research, education and support – and builds community – to improve outcomes, save lives and empower all people to thrive who are living with Marfan, Loeys-Dietz, Vascular Ehlers-Danlos syndromes, and related genetic aortic and vascular conditions.