Northwestern Memorial Specializes in Treating Marfan Syndrome – A Rare Growth Disorder Affecting Heart Health

Damaging effects can cut an individual’s life expectancy in half if not identified and treated

It’s likely that most people have not heard of Marfan syndrome. But treating this little-known growth defect that afflicts an estimated one in 5,000 people in the United States each year is an area of importance to the Bluhm Cardiovascular Institute of Northwestern Memorial Hospital. Marfan syndrome is an inherited condition that occurs when the body does not properly produce fibrillin, a protein that provides strength and elasticity to connective tissue. The lack of tissue strength compromises the heart’s own ability to work properly. The disease has no preferences among genders, races and age groups and early detection of this disorder can add years to the lives of those battling this disease.

“If left unrecognized or untreated, the cardiovascular defects from Marfan syndrome can drastically diminish the quality of life for an individual, with the average life expectancy being 45 years.” says S. Chris Malaisrie, MD, co-director of the thoracic aortic surgery program at the Bluhm Cardiovascular Institute.  “With proper medical management, Marfan syndrome patients can expect to achieve a normal life expectancy.”

Together with Patrick M. McCarthy, MD, chief of cardiothoracic surgery and co-director of the Bluhm Cardiovascular Institute, and cardiologist Marla A. Mendelson, MD, Dr. Malaisrie provides comprehensive diagnosis and surgical treatment for these complications at the institute’s Marfan syndrome and Related Disorders Clinic. 

Outward physical symptoms of the condition can vary greatly, from disproportionate length of limbs to a protruding chest. For approximately 90 percent of people with Marfan syndrome, the lack of tissue strength leads to cardiovascular abnormalities primarily affecting the aorta, the largest artery of the body that carries blood pumped from the heart to other organs. These abnormalities include aneurysm (enlargement of the aorta), dissection (tear within the aorta’s inner wall), or a transaction (rupture) of the aorta and/or aortic root. In another characteristic defect known as mitral valve prolapse, the valve separating the heart’s left chambers bulges slightly back into one of the chambers when closing, allowing blood to leak backward into the heart and possibly cause heart failure.

There is no single test to diagnose Marfan syndrome. Instead, a thorough medical review is leveraged to identify the disorder and outline a course for treatment.  A Marfan evaluation can include diagnostic tests such as an echocardiogram to screen for aortic or mitral valve disease, an electrocardiogram to determine an abnormal heartbeat, and cardiac magnetic resonance imaging (MRI) to view detailed images of the heart chambers and valves. In cases of aortic aneurysm, medications known as beta blockers may be administered to reduce the aorta’s growth rate and stabilize blood pressure.

For patients requiring surgical intervention to correct cardiovascular abnormalities, the clinic offers several procedures such as aortic root replacement and arch repair surgeries, which utilize tissue or mechanical valve grafts to address or replace the deficient portion of the aorta. In cases of mitral valve prolapse, proper valve function is restored through the insertion of a prosthetic ring to support a repaired valve.
“This disorder’s rare occurrence underscores the importance of early diagnosis and treatment to limit and prevent serious heart complications,” states Dr. McCarthy. 

The Bluhm Cardiovascular Institute also offers genetic testing for patient’s relatives to determine if other family members could potentially be affected by the disorder.  For more information regarding Marfan syndrome diagnosis and treatment options at the Bluhm Cardiovascular Institute at

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