What Is Marfan Syndrome?
Marfan syndrome is a genetic disorder that affects connective tissue. Connective tissue protects, supports and gives structure to all other tissues and organs in the body. It is caused by a change in a gene (variant) that helps the body produce a protein that gives connective tissue strength and elasticity.
Most people with Marfan syndrome inherit it, meaning it is passed down from parent to child. But sometimes Marfan syndrome occurs spontaneously, with no prior history in the family.
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
- Stretch marks on the skin that weren't caused by pregnancy or weight gain/loss
Effects on the Cardiovascular System
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.
Effects on the Musculoskeletal System
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.
Effects on Vision
Marfan syndrome can affect the eyes, causing a number of problems with vision. Issues include severe nearsightedness, a dislocated lens, a detached retina, and early glaucoma or cataracts.
How Is Marfan Syndrome Diagnosed?
Because symptoms of Marfan syndrome be a life-threatening condition, early diagnosis and treatment are critical.
At Penn Medicine, Marfan syndrome evaluation includes:
- Physical exam and medical history: We ask you detailed questions about your medical history and family medical history. Then we do a thorough exam to look for features of Marfan syndrome.
- Echocardiogram (echo): This test uses ultrasound waves to take pictures of the heart's valves and the aorta.
- Electrocardiogram (ECG): This test records the electrical impulses in the heart and can detect abnormal heart rate or rhythm.
- Eye exam: We look for any abnormalities, especially a lens that is out of place.
- Genetic testing and counseling: A special genetic test evaluates FBN1, the gene involved in most cases of Marfan syndrome. Anyone having genetic testing for Marfan syndrome should also have genetic counseling. A trained specialist helps you understand the process and what it might mean for you and your family.
Marfan Syndrome Treatment at Penn
There's no cure for Marfan syndrome, but treatment can help you live a long and full life. An essential part of treatment is monitoring certain body systems over time to catch any problems early.
Treatment varies, depending on how the condition affects you, and may include:
- Genetic counseling to make sure any affected relatives receive early diagnosis and treatment
- Medications to control blood pressure to protect the aorta
- Regular eye exams and corrective procedures when necessary
- Regular imaging tests to check the aorta and spine
- Surgery to correct heart or musculoskeletal defects
The Penn network has experts in every medical subspecialty. All of our specialists work as a team to provide complete care for any effects of Marfan syndrome. Your Penn team may include experts in:
Penn Programs & Services for Marfan Syndrome
Our team of specialists treats more people with aortic disease than any other center in the area.
Inherited cardiac disease affects multiple generations. The Penn Center for Inherited Cardiovascular Disease provides comprehensive care for genetic heart conditions.
Marfan syndrome is a hereditary disorder that affects the body's connective tissue. At the Translational Medicine and Human Genetics program, we are dedicated to the comprehensive evaluation and management of older children and adults with a known or suspected diagnoses of Marfan syndrome.