Marfan Syndrome

Overview

What Is Marfan Syndrome?

Marfan syndrome is an inherited condition that damages the connective tissues in your heart and blood vessels. As a result, people who have Marfan syndrome are more prone to aneurysms (weak spots in your blood vessels that bulge or burst) and heart valve disease.

To help people with Marfan syndrome live well and thrive, Aurora Health Care established the Center for Marfan and Aortic Disorders in Milwaukee.

This center allows us to provide personalized, easy access to many specialists during one visit. You can see cardiologists, cardiac and vascular surgeons, genetic counselors, ophthalmologists and orthopedic surgeons.

Causes

What Causes Marfan Syndrome?

Marfan syndrome results from a defect in a gene that helps your body create strong, elastic connective tissue, including tissue in the heart.

In about 75% of cases, the Marfan gene is inherited from a parent. In the remaining 25%, an abnormal gene develops on its own.

People with Marfan syndrome have a 50% chance of passing the gene on to their children.

Symptoms

Symptoms of Marfan Syndrome

Sometimes, the signs of Marfan syndrome are so mild they are hardly noticeable. Other times, symptoms can result in complications that can threaten your life, especially as you age.

People with Marfan syndrome are often tall and thin, with long limbs and other distinctive physical features. Other signs of Marfan syndrome may include:

  • Chest that sinks in or sticks out
  • Spine that curves to one side, known as scoliosis
  • Tall, thin build
  • Crowded teeth
  • Flat feet
  • Flexible joints
  • Long arms, legs, fingers and toes
  • Stretch marks unrelated to weight gain or pregnancy

Complications

Complications of Marfan Syndrome

Marfan syndrome causes a wide variety of health complications. Many of these affect the heart valves and blood vessels, which is why we created our center for comprehensive care.

Serious Complications

The most serious complications may involve your heart valves or your aorta, the major artery supplying your body with blood. As a result, Marfan can lead to:

  • Aortic aneurysm: When a portion of the wall of the aorta stretches and weakens, it is called aortic aneurysm.
  • Aortic dissection: A stretched and weakened aorta may tear and leak blood. This serious condition, called aortic dissection, causes 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, a type of aortic valve disease. Eventually, this condition can cause cardiomyopathy (an enlarged and weakened heart muscle) or congestive heart failure.
  • Mitral valve disease: Marfan syndrome can cause two types of mitral valve disease. Mitral valve prolapse results when the valve between the upper and lower chambers on the heart’s left side doesn’t close properly. When the condition progresses, it can cause mitral valve regurgitation, which causes a heart murmur or palpitations, shortness of breath and fatigue.

Other Complications

Marfan syndrome can also cause other complications.

These may include eye complications:

  • Detached retina
  • 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

Diagnosis

Expert Diagnosis of Marfan Syndrome

Marfan syndrome can cause a variety of symptoms, and diagnosis is not always simple. Our goal is to correctly diagnose the condition as early as possible, so you can receive treatment to help you live well.

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

  • Chest X-ray: We may take a chest X-ray to examine the internal structures of your chest.
  • Orthopedic exam: A specialized doctor called an orthopedist may examine your bones and joints.
  • Eye exam: An ophthalmologist may examine the health of your eyes.
  • Heart tests: Several tests can help us check the function of your heart and rule out other conditions. These tests may include:
  • Genetic testing: Genetic testing provides a starting point for diagnosis. It may not provide a conclusive diagnosis of Marfan syndrome, but it can help us understand whether you and your family have some type of connective tissue disorder.

Learn more about heart and vascular diagnosis and testing at Aurora.

Treatment

World-Class Care for Marfan Syndrome

Currently there is no known cure for Marfan syndrome. Because symptoms vary dramatically from person to person, treatment is very individualized.

Recommended Medical Advice

Medical advice may include:

  • Observation: If you have mild symptoms, we may just recommend observation with annual follow-up appointments.
  • Specialized medical care: If your condition is more advanced, you may need to see a specialist. 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.
  • Preventive antibiotics: Many people with Marfan syndrome may be advised to take antibiotics prior to having dental work or surgical procedures. This precaution reduces the risk of infective endocarditis, a serious infection of one or more of your heart valves. Read more about heart valve disease.
  • Avoiding strenuous sports: Some people may be advised to avoid strenuous sports, such as football, basketball and weightlifting.
  • Monitored pregnancy: Women who have Marfan syndrome and become pregnant are considered high risk. They may need special heart monitoring during their pregnancy.

Heart Treatments

For people whose Marfan syndrome causes heart-related conditions, we provide the complete range of available cardiac treatments. These treatments may include:

  • Devices: We may recommend implantable devices to help your heart work more effectively:
  • Medications: Drugs, such as beta blockers and angiotensin receptor blockers, may slow or halt the progression of aortic valve disease. They also can treat hypertension and congestive heart failure, two conditions that make heart valve disease worse.
  • Surgery: Our advanced surgical procedures use minimally invasive or open techniques to repair an aortic aneurysm or to repair or replace a damaged heart valve.

Learn more about cardiovascular surgery.

Innovators in Treating Marfan Syndrome

Valve Repair & Replacement

In our groundbreaking transcatheter aortic valve replacement (TAVR) procedure, we replace the damaged aortic valve with an artificial valve. The minimally invasive procedure uses a catheter, or a thin tube, rather than open surgery. 

Ventricular Assist Devices (VAD)

We are experts in technology that helps hearts beat better. In fact, we have been a clinical trials test site for many of the VAD and artificial heart pump devices introduced in the past 30 years. That means we have years of experience in identifying and providing the right treatment for each person.

New & Innovative Treatments

We’ve been involved in many clinical trials and new procedures to treat aortic valve disease. We have been involved in nearly all of the largest trials of replacement aortic valves.
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