Marfan syndrome is an inherited condition that damages the connective tissues in your heart and blood vessels and makes you more prone to aneurysms (weak spots in your blood vessels that bulge or burst). 

In about 75% of cases, the Marfan gene is inherited from a parent. People with Marfan syndrome have a 50% chance of passing the gene on to their children.


Marfan syndrome doesn’t always cause symptoms to the same degree. Sometimes, the signs of Marfan syndrome are so mild they are hardly noticeable. Other times, symptoms can result in life-threatening complications, especially as people age. People with Marfan syndrome are often tall and thin, with long limbs and other distinctive physical features. 

Some of the more noticeable signs and symptoms of Marfan syndrome involve your bones and skin, including:

  • A chest that sinks in or sticks out
  • A spine that curves to one side, known as scoliosis
  • A tall, thin build
  • Crowded teeth
  • Flat feet
  • Flexible joints
  • Long arms, legs, fingers and toes
  • Stretch marks unrelated to weight gain or pregnancy
Marfan syndrome causes a wide variety of clinical symptoms. The most serious conditions are those that affect the heart and blood vessels. It can also affect the connective tissue of your bones, tendons, cartilage, eyes, skin, lungs and nervous system.

Less noticeable but more serious complications may involve the aorta and some of the heart’s valves, which can lead to the following conditions:

  • Aortic aneurysm: A portion of the artery wall stretches and weakens
  • Aortic dissection:  A stretched and weakened aorta tears and leaks blood, resulting in severe pain in either the front or back of the chest or belly
  • Aortic regurgitation: The aortic valve stretches and allows blood to leak back into the left ventricle, eventually causing cardiomyopathy and sometimes congestive heart failure
  • Mitral valve prolapse: The valve between the upper and lower chambers on the heart’s left side doesn’t close properly
  • Mitral valve regurgitation: When mitral valve prolapse progresses, it can cause a heart murmur or palpitations, shortness of breath and fatigue 
Marfan syndrome eye complications may include: 

  • A detached retina
  • A dislocated lens
  • Early glaucoma or cataracts
  • Severe nearsightedness
Symptoms affecting other parts of the body may include:

  • A widening of the sac around the spinal cord, leading to pain, numbness or weakness in the legs
  • The stretching of tiny air sacs in the lungs, which can result in a collapsed lung


Along with performing a complete physical exam, your health care provider will ask you questions about your symptoms and your family’s health history. Depending on your symptoms, you may also have:

Services & Treatment

Currently there is no known cure for Marfan syndrome. Because symptoms vary dramatically from patient to patient, treatment is very individualized. If you have mild symptoms, your doctor may require only observation with annual follow-up appointments.

If your condition is more severe, treatment will depend on which organ systems are affected and to what degree. If your condition affects your heart, you may need to see a cardiologist. If it affects your bones or eyes, you may need to see an orthopedist or ophthalmologist.

When Marfan’s causes heart-related conditions, we provide you with a range of treatments that may include:

  • Devices, such as an implantable ventricular assist device to treat advanced heart failure, or an implantable cardioverter defibrillator (ICD) to prevent sudden cardiac death
  • Medications, such as beta-blockers and angiotensin receptor blockers, to slow or halt the progression of aortic dilation and treat hypertension and congestive heart failure
  • Surgery to repair an aortic aneurysm, or to repair or replace a damaged heart valve


Many people with Marfan’s may be advised to take antibiotics prior to having dental work or surgical procedures to reduce the risk of infective endocarditis, a serious infection of one or more of your heart valves.

Some people may be advised to avoid strenuous sports, such as football, basketball and weightlifting. Women who have Marfan’s and become pregnant are considered high risk and may need special heart monitoring during their pregnancy.

Why Aurora?

Because Marfan syndrome often involves cardiovascular conditions, Aurora Health Care established the Center for Marfan and Aortic Disorders, located in Milwaukee, Wisconsin, to help people live well and thrive with this condition.

This center allows us to provide you with easy access to many specialists during one visit. You can see cardiologists, cardiac and vascular surgeons, genetic counselors, ophthalmologists and orthopedic surgeons. To contact the Center for Marfan and Aortic Disorders, please call 414-385-2400 or toll free 855-229-2400.

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