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
  • Nearsightedness
  • Stretch marks on the skin that weren’t caused by pregnancy or weight gain/loss

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 Medicine

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:

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