Marfan syndrome, a rare disorder caused by a mutation in the fibrillin-1 gene, results in an excess of transforming growth factor beta. The increase typically results in overgrowth of the long bones, and the heart, blood vessels, joints and eyes are also often affected.
Without accurate early diagnosis and treatment, people with Marfan syndrome and related conditions can be at a risk of potentially life-threatening complications, such as aortic enlargement. Diagnosis and management are complex because of the highly variable presentation of Marfan syndrome, the extensive differential diagnosis, the age-dependent nature of many manifestations and the absence of gold standards.
According to the Marfan Foundation, the best place to go for treatment of Marfan syndrome is a coordinated center that provides expertise in all Marfan-related specialties, including genetic testing and counseling, cardiology, ophthalmology and orthopaedics. UF Health has been recognized by the foundation as a certified center.
Tomas Martin, M.D., a professor of surgery in the division of thoracic and cardiovascular surgery at the UF College of Medicine and director of the UF Health Aortic Disease Center, says UF Health stands out as a Marfan treatment center because of its large volume of aortic surgeries. Up to 80% of patients with Marfan syndrome have defects of the aorta, most commonly progressive aortic root aneurysm and subsequent aortic valve insufficiency, and if left untreated, they’re at high risk of aortic dissection and rupture.
“We do more than 600 aortic surgeries per year in our group, which is a huge volume. I’ve been doing Marfan surgery for more than 30 years,” said Martin.
Another important feature of the Marfan treatment center at UF Health is its experience in treating adults, unlike the many centers that focus on pediatric patients.
“We have everything from prenatal Marfan syndrome recognition to expertise in treating the complications that arise for older adults,” said Martin. “We have dedicated pediatric specialists, a pediatric cardiac surgeon, geneticists and cardiologists who can treat these patients as adults.”
UF Health also offers preconception counseling is available for women with Marfan syndrome, because their risk of aortic dissection and other cardiovascular problems is high during pregnancy. For women who do become pregnant, UF Health provides multidisciplinary care throughout the prenatal and peripartum periods.
The Marfan treatment experts at UF Health are actively involved with the Marfan Foundation. They present symposia that educate patients and families, and they help raise funding for research. At UF Health, multiple research programs are investigating the genetics of aortic disease in patients with Marfan syndrome. Clinicians can trust UF Health to provide high-quality care for their patients who show signs of Marfan syndrome or a related disorder.