Marfan Syndrome

Treating Cardiovascular Diseases in Wisconsin and Northern Illinois

Marfan syndrome is a complex condition that affects your body’s connective tissue. Connective tissue not only holds your body together and provides support to many of its structures, but also helps control how your body grows and develops.

Marfan syndrome causes a wide variety of clinical symptoms. The most serious conditions are those that affect the heart and blood vessels. These conditions usually involve the aorta, which is the main blood vessel that supplies oxygen-rich blood to your body. They may also affect the heart valves, causing them to leak. Marfan syndrome can also involve the connective tissue of your bones, tendons, cartilage, eyes, skin, lungs and nervous system.

At least 200,000 people in the United States have Marfan syndrome. It can affect men, women and children of all ages and ethic groups.

Symptoms of Marfan Syndrome

Not everyone with Marfan syndrome has symptoms to the same degree. Sometimes signs of Marfan syndromeare so mild, they are hardly noticeable. Other times, symptoms can result in life-threatening complications, especially as people age.

Some of the more noticeable signs and symptoms of Marfan syndrome involve the bones and skin, resulting in the following traits:

  • 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

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

  • An aortic aneurysm, which occurs when a portion of the artery wall stretches and weakens
  • An aortic dissection, a life-threatening condition that occurs when a stretched and weakened aorta tears and leaks blood, resulting in severe pain in either the front or back of the chest or abdomen
  • Aortic regurgitation, which occurs when 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, which occurs when the valve between the upper and lower chambers on the heart’s left side doesn’t close properly. The valve leaflets bulge upward into the left atrium.
  • Mitral valve regurgitation, which occurs when mitral valve prolapse progresses, causing a heart murmur or palpitations, shortness of breath and fatigue 

Marfan syndrome signsthat affect the eyes 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 can lead to pain, numbness or weakness in the legs
  • In the lungs, tiny air sacs can become stretched which can result in a collapsed lung

Causes of Marfan Syndrome

Marfan’s is the result of a malfunctioning gene known as FBN1. In about 75 percent of cases, this gene is inherited from a parent. In the other cases, the individual with Marfan’s is the first in the family to have the condition. People who have Marfan syndrome have a 50 percent chance of passing the gene on their children.

Diagnosing Marfan Syndrome

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 undergo any of the following:

  • A chest X-ray
  • A complete exam of your bones and joints by an orthopedist
  • A complete eye exam by an ophthalmologist
  • Electrocardiograph testing
  • Genetic testing, to detect the gene that causes Marfan’s syndrome
  • Magnetic Resonance Imaging (MRI) 
  • Radiographic testing, which may include computed tomography
  • Ultrasound testing, which may include echocardiography or transesophageal echocardiography (TEE)

To help identify this condition, a group of international experts in Marfan syndrome outlined clinical criteria that must be met when diagnosing people with this condition.

Treating Marfan Syndrome

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 implantable cardioverter defibrillator (ICD) to prevent sudden cardiac death
  • Medications, such as beta-blockers and angiotensin receptor blockers 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.

A Leader in Treating Marfan Syndrome and Aortic Disorders

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 may 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.

Aurora doctors are conveniently located throughout eastern Wisconsin and northeastern Illinois. Find a doctor or heart specialist near you. To get a second opinion or if you need assistance finding a provider, please call 888-649-6892.