What is Marfan syndrome?
Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue protects, supports, and gives structure to all other tissues and organs in the body. This condition most often affects the heart, blood vessels, eyes, bones, and spine. It can range from mild to serious.
Doctors in different specialties treat Marfan syndrome, including heart and vascular experts, ophthalmologists, and orthopaedists, among others. At Penn Medicine, our expert clinicians work collaboratively across disciplines, offering a comprehensive approach to care that treats your symptoms and helps you stay healthy.
Marfan syndrome symptoms
The symptoms of Marfan syndrome can vary widely, even among members of the same family. Some people have features and symptoms early in life, but others don’t develop any signs until adulthood. The effects of Marfan syndrome may worsen over time. They can be life-threatening, depending on what parts of the body are affected.
People with Marfan often have:
- Arms, legs, fingers, and toes that are longer than expected
- Taller stature than expected for the family
- Breastbone that sticks out or in (pectus exacavtum or carinatum)
- Crowded teeth
- Curved spine (scoliosis)
- Flat feet
- Heart murmurs, floppiness of the mitral valve (mitral valve prolapse), or widening of the aorta where it leaves the heart
- Nearsightedness
- Stretch marks on the skin that weren’t caused by pregnancy or fluctuations in weight
Marfan syndrome can affect the heart and blood vessels. It can enlarge the aorta, the main blood vessel that carries blood from the heart to the rest of the body. Aortic enlargement can lead to a bulge (aneurysm) or tear (dissection) in the aorta. The syndrome can also weaken heart valves, leading to heart failure. In addition, the syndrome can create sudden lung collapse, asthma, emphysema, and sleep apnea.
Marfan syndrome can affect the bones and joints. For example, the breastbone can stick out or in. The spine may curve (called scoliosis), or swelling may occur around the spinal column. Many people with Marfan syndrome report foot pain and back pain.
What causes Marfan syndrome?
Marfan syndrome is caused by a change in a gene (a variant) that affects a protein needed to make tissues strong and elastic. It often involves a variation in the FBN1 gene.
Most people with Marfan syndrome inherit it, when it’s passed down from parent to child. Though sometimes the condition occurs spontaneously with no prior history in the family. If you’ve inherited Marfan syndrome, genetic testing and counseling can help you understand what this might mean to you and your family.
How is Marfan syndrome diagnosed?
Because Marfan syndrome can be a serious, even life-threatening condition, early diagnosis is critical. Your doctor will ask you detailed questions about your health background and family medical history, then do a thorough physical exam to look for features of Marfan syndrome. They’ll often recommend genetic tests, along with an eye exam, imaging scans, and heart tests to confirm a diagnosis.
Marfan syndrome treatment at Penn Medicine
There’s no cure for Marfan syndrome, but treatment can help you live a long and full life. Regular checkups with eye exams and imaging tests of the heart and spine are often used to monitor your condition over time and catch any issues early. Certain medications and genetic counseling may also be recommended. Advanced cases may require cardiac, orthopaedic, or eye surgery.
Specialized care for your whole body
Marfan syndrome can affect many different areas of your body from your heart to your spine to your eyes. At Penn Medicine, you’ll have access to experts in a wide range of disciplines who work together to create an individualized care plan tailored to your needs.
This includes medical genetics teams with experience in inherited cardiac disease and clinicians at Penn Medicine’s Aorta Center, which provides advanced cardiac treatment for those who need it. Our opthalmologists and orthopaedic specialists are key collaborators too, making it possible for you to receive well-rounded care in one encompassing health system.