Marfan syndrome

If you or a loved one has Marfan syndrome, it can seem a complicated condition to understand and manage. That’s why we created our Center for Marfan and Aortic Disorders in Milwaukee to give you personalized, easy access to the many specialists you may need in a single visit.

Our experienced cardiologists, heart surgeons, genetic counselors, ophthalmologists and orthopedists are here for you to answer all your questions and to offer you and your family the best care possible.

What is Marfan syndrome?

Marfan syndrome is a genetic condition you’re born with, but you may not notice any features until later in life.

The condition affects the connective tissues in your heart and blood vessels. This means you may be more prone to serious heart conditions like aneurysms, which are weak spots in your blood vessels that can bulge or burst, or heart valve disease.

Marfan syndrome causes

Marfan syndrome happens because there is a gene defect that prevents your body from creating strong, elastic connective tissue, including tissue in the heart. Most of the time, the Marfan gene is inherited from a parent. Other times, the abnormal gene develops on its own.

If you have Marfan syndrome, there’s a 50% chance of passing the gene on to your children.

Marfan syndrome symptoms

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

Distinctive physical features are often a sign of Marfan syndrome. Signs may include:

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

Marfan syndrome complications

Marfan syndrome can cause a wide variety of health complications. The most serious can involve your heart valves or aorta, the major artery supplying your body with blood. Other complications can affect your eyes and other parts of the body.

Marfan syndrome can lead to:

• Aortic aneurysm or aortic dissection, when a portion of the wall of the aorta stretches and weakens, which can burst or tear and leak blood
• Aortic valve disease, specifically aortic regurgitation, where the aortic valve allows blood to leak back into the left ventricle, which eventually can cause cardiomyopathy (an enlarged, weakened heart muscle) or heart failure
• Mitral valve disease, specifically mitral valve prolapse and mitral valve regurgitation, where blood leaks backward and can lead to a heart murmur, heart palpitations, shortness of breath and fatigue

Eye complications:

• Detached retina or dislocated lens
• Early glaucoma or cataracts
• Severe nearsightedness

Complications in other parts of the body:

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

Marfan syndrome diagnosis

Because Marfan syndrome can cause a variety of symptoms, diagnosis is not always simple. Our team of specialists have the experience and expertise to correctly diagnose Marfan syndrome and any developing conditions, so you or your loved one can receive the right treatment as early as possible.

We’ll start with a thorough physical exam and ask you about your symptoms and your family’s health history. We may order testing for you, too, such as:

• Radiographic imaging, including a chest X-ray, CT scan or MRI to examine your heart and other internal structures
• Orthopedic exam by an orthopedist to examine your bones and joints
• Eye exam by an ophthalmologist to examine the health of your eyes
• Heart tests to check the function of your heart and rule out other conditions, including:

• Echocardiogram, or heart ultrasound, such as a transesophageal echocardiogram (TEE), that shows your heart’s size and motion
• Electrocardiogram (EKG) to check your heart’s electrical activity and rhythm

• Genetic testing, which can help us understand whether you and your family have some type of connective tissue disorder

Find out more about our heart and vascular testing and diagnosis.

Marfan syndrome treatment

With Marfan syndrome, your symptoms and complications can vary dramatically from another person’s. That’s why we believe in tailoring a treatment plan just for you, one that protects you and your heart.

We may recommend:

• Observation with annual follow-up appointments if your symptoms are mild
• Specialized medical care if your condition is more advanced, with visits to see a cardiologist, orthopedist or ophthalmologist if your condition affects your heart, bones or eyes
• Antibiotics prior to having dental work or surgical procedures to reduce the risk of infective endocarditis, an infection in the inner lining of your heart chambers and valves
• Avoiding strenuous sports, such as football, basketball and weightlifting
• Heart monitoring during pregnancy if you’re a woman with Marfan syndrome and become pregnant
• Heart treatments including:

• Medications, such as beta blockers and angiotensin receptor blockers, to treat hypertension, aortic valve disease or heart failure
• Devices to help your heart work better, such as a ventricular assist device (VAD) or implantable cardioverter defibrillator (ICD)
• Cardiovascular surgery, using the most advanced minimally invasive or open heart techniques, such as our groundbreaking transcatheter aortic valve replacement (TAVR) procedure where we replace the damaged aortic valve with an artificial valve