Key takeaways

• Marfan syndrome is a genetic disorder that weakens the body’s connective tissue, which acts as the "glue" supporting organs and blood vessels.

• Aortic disease risk: The condition often causes the aorta to stretch and weaken (called an aortic dilation or aneurysm), significantly increasing the risk of a life-threatening aortic dissection (a tear in the wall of the aorta). The condition can also cause heart valve disease.

• Genetics: It is a hereditary condition. A parent with Marfan syndrome has a 50% chance of passing on the Marfan syndrome-causing genetic variant to their child. Genetic testing for family members is recommended and offered through the UF Health Aortic Disease Center.

• Marfan syndrome treatment: Care for patients with Marfan syndrome centers on lifelong aortic surveillance using advanced imaging, lifestyle changes, and timely preventive surgery at specialized centers like the UF Health Aortic Disease Center.

What is Marfan syndrome?

Marfan syndrome is a genetic connective tissue disorder. Connective tissue provides strength and flexibility to structures throughout the body, including your bones, joints, eyes, heart and blood vessels.

In patients with Marfan syndrome, a specific disease-causing genetic variant causes this tissue to be weaker than normal. While it affects many parts of the body, the most critical risks involve the cardiovascular system, specifically the aorta. This main highway carries blood from the heart to the rest of the body.

Who does it affect?

Marfan syndrome affects men, women and children of all backgrounds. Because it is a genetic condition, it frequently runs in families.

• If a parent has Marfan syndrome, there is a 50% chance that each of their children will inherit the condition.

• In about 1 in 4 cases, the Marfan syndrome-causing genetic variant happens spontaneously, meaning the person is the first in their family to have it.

Symptoms and physical features

The signs of Marfan syndrome can vary widely from person to person, even within the same family. Some people experience mild features, while others develop severe complications early in life.

Common features and symptoms are grouped by how they affect the body:

Cardiovascular features

• Aortic (root, ascending, descending, thoracoabdominal) dilation or aneurysm

• Aortic dissection or rupture

• Heart valve disease (mitral and/or aortic valve regurgitation and prolapse)

Physical and skeletal features

• A tall, thin build with long arms, legs, fingers and toes.

• A curved spine, or scoliosis.

• Structural chest differences, such as a breastbone that sinks inward, called pectus excavatum or sticks out, called pectus carinatum.

• Flat feet and loose, flexible joints.

Vision and eye problems

• Severe nearsightedness.

• Dislocation of the lens in one or both eyes (lens moves out of its normal place).

• Early development of cataracts or glaucoma.

Lung and skin symptoms

• Sudden collapse of a lung, also called spontaneous pneumothorax.

• Unexplained stretch marks on the skin that are not related to weight changes.

Marfan syndrome and the aorta

The most serious complication of Marfan syndrome is its effect on the cardiovascular system. Over time, the constant pressure of blood flowing through a weakened aorta causes the arterial wall to stretch and bulge, forming an aortic aneurysm.

If the aorta is stretched too much, it can lead to an aortic dissection. This occurs when the inner layer of the aorta tears, allowing blood to surge through the arterial wall. An aortic dissection is a life-threatening medical emergency that often requires immediate surgical repair.

How is it managed and treated?

While there is currently no cure for Marfan syndrome, advanced treatment options at the UF Health Aortic Disease Center allow patients to live long, active lives. Treatment focuses on protecting the aorta and preventing dangerous complications.

Specialized surveillance

Because aortic issues can develop early in life, regular checkups are vital. Patients receive routine aortic imaging, including echocardiograms, CT scans or MRIs, to monitor for signs of growth or expansion.

Medications

Doctors often prescribe blood pressure medications, such as beta-blockers or angiotensin receptor blockers (ARBs). These medications lower blood pressure and reduce the stress on the aortic wall, slowing down the rate of aortic widening.

Lifestyle changes

Patients are advised to avoid high-intensity competitive sports, heavy weight lifting and contact sports. These activities cause rapid spikes in blood pressure that are able to strain a fragile aorta. Safer substitutes include low-impact exercises such as walking, swimming or cycling at a moderate pace.

Preventive aortic surgery

If imaging shows that the aorta has stretched to a dangerous size, our surgical team will recommend preventive surgery before a tear can occur. Replacing the weakened section of the aorta with a synthetic tube, or graft, through an open-heart surgery or TEVAR procedure is highly effective and carries a much lower risk than emergency surgery performed after a dissection.

Genetic counseling

Because Marfan syndrome is hereditary, genetic counseling is a key part of our program. Our genetic counselors help families understand their inheritance risks, assist with family planning and coordinate genetic testing and aortic screening for relatives who may be at risk.

Frequently asked questions

Why does Marfan syndrome cause different symptoms in different people?

Marfan syndrome features "variable expression." This means that even though family members carry the same genetic mutation, the gene can affect their bodies differently. One person may only have mild skeletal features, while their sibling might experience significant heart and eye complications.

Can you prevent Marfan syndrome?

No, you cannot prevent the genetic variant that causes Marfan syndrome. However, with early diagnosis and proactive medical management, you can prevent its most dangerous complications, such as an aortic rupture.

What exercises are safe for someone with Marfan syndrome?

Generally, low- to moderate-intensity aerobic exercise is safe and encouraged for heart health. Activities like brisk walking, leisurely cycling, and light hiking are great options. You should strictly avoid activities that involve straining, pushing or sudden collisions. These can include weightlifting, football or sprinting. Always consult your UF Health Aortic Disease Center team before starting a new exercise routine.

At what size does an aorta require preventive surgery in Marfan syndrome?

For standard aortic aneurysms, surgery is often delayed until the artery reaches a larger size. However, because the tissue in Marfan syndrome is inherently weaker, preventive surgery is typically recommended sooner—often when the aorta approaches5 centimeters in diameter, if it is expanding at a rapid pace, or if there is progressive and severe heart valve disease.

Why choose the UF Health Aortic Disease Center?

Managing Marfan syndrome requires a lifetime of coordinated care across multiple medical specialties. The UF Health and the UF Health Aortic Disease Center bring together world-class internal medicine physicians, genetic counselors, ophthalmologists, cardiothoracic and vascular surgeons. Our team specializes in the careful tracking and advanced preventive surgical treatment of genetic aortic diseases, ensuring you receive personalized care at every stage of life.

To learn more about our genetic aortic disease programs or to schedule an appointment, please contact the UF Health Aortic Disease Center Genetics Team at 352-273-9936.

This entry was written by Gabrielle Massari, Marketing Content Writer, and reviewed for accuracy by Eric Jeng, MD. Generative AI was leveraged as part of the content creation process.