Cardiovascular Complications: The Main Cause of Mortality in patients with Marfan syndrome
Marfan syndrome is an inherited disorder of the connective tissue (fibers that provide the framework and support for the body) that is estimated to occur in at least 1 in 5,000 persons. It is seen in all races and ethnic groups, and can appear at any age.
The number of undiagnosed individuals with Marfan syndrome in the United States is estimated to be in the tens of thousands. The average life expectancy for an undiagnosed individual with the condition is approximately 40 years of age. "Cardiovascular complications are the cause of death in patients with Marfan syndrome," says S. Chris Malaisrie, MD. "The two main cardiac problems these individuals face are the need for valve repair or replacement and the need for aortic aneurysm replacement. Early diagnosis, medical management and surgery to prevent early death from aortic rupture can extend the lifespan of these individuals to approximately 70 years."
S. Chris Malaisrie, MD, is co-director of the Marfan syndrome and Related Disorders Clinic and co-director of the Thoracic Aortic Surgery program at the Bluhm Cardiovascular Institute of Northwestern Memorial and assistant professor of Surgery at Northwestern University's Feinberg School of Medicine.
The Bluhm Cardiovascular Institute's Marfan syndrome and Related Disorders Clinic provides comprehensive diagnosis, multidisciplinary medical management and timely surgical intervention to treat patients who have Marfan syndrome. "The standard therapy is aortic root replacement with a mechanical valve," says Dr. Malaisrie. "We offer valve-sparring aortic root replacement, which allows patients to avoid the risks associated with chronic blood thinning (anticoagulation) medication. The procedure is as safe as traditional aortic root replacement. As part of the Aortic Valve Operative Outcomes Study, a multicenter prospective registry conducted by the National Marfan Foundation, we follow outcomes for our patients with Marfan syndrome who receive aortic root surgery. So far, our operative death rate is zero percent."
In addition to cardiology and cardiac surgery, specialties affiliated with the Marfan syndrome and Related Disorders Clinic include medical genetics, neurosurgery, ophthalmology, obstetrics, orthopedics, pain/anesthesia, and pulmonology. "Patients with Marfan syndrome may not require surgery for many years," says Marla A. Mendelson, MD. "Therefore they should be seen at a center providing good long-term follow-up including the appreciation and anticipation of problems before they occur. We provide comprehensive services including pre-conception counseling in the Heart Disease and Pregnancy Program. While some women with Marfan syndrome can have a safe pregnancy, they should be aware of the risks associated with pregnancy."
Marla A. Mendelson, MD, is co-director of the Marfan syndrome and Related Disorders Clinic and medical director of the Center for Women's Cardiovascular Health in the Bluhm Cardiovascular Institute and associate professor of Medicine and Pediatrics at the Feinberg School.