Comparison of clinical characteristics and frequency of adverse outcomes in patients with Marfan syndrome diagnosed in adulthood versus childhood.

Patients with Marfan syndrome (MFS) continue to elude diagnosis until well into adulthood. The purpose of this study was to compare the clinical characteristics and outcomes of adult survivors with MFS diagnosed during adulthood (age, >or=18 years) with those of adult survivors with MFS diagnosed in childhood (<18 years). We conducted a retrospective review of 66 adult (age, >18 years) MFS patients seen at a combined pediatric and adult multidisciplinary MFS clinic from 2004 to 2006. Demographic, clinical, and cardiac variables were collected and a comparative analysis was performed between the two groups: patients diagnosed with MFS during childhood and patients diagnosed in adulthood. The primary outcome measures were the presence of aortic dissection and the need for urgent cardiovascular surgery. Despite a similar incidence of clinical characteristics, 39 of the 66 MFS patients were not diagnosed until adulthood. The overall incidence of major cardiac involvement was comparable between the two groups, although the patients diagnosed at a younger age were found to have a reduced need for aortic surgery (33% vs. 59%; P < 0.04) and fewer adverse cardiac outcomes (0% vs. 46%; P < 0.001). Moreover, the patients diagnosed with MFS in adulthood were more likely to require repeated surgical intervention for distal aortic disease (13% vs. 0%; P = 0.07). In conclusion, patients with MFS who remain undiagnosed until adulthood have well-established cardiovascular pathology frequently requiring surgical intervention. Due to this delay in diagnosis and management, they often suffer from a suboptimal clinical outcome. Our research demonstrates the importance of educating pediatric clinicians in early MFS diagnosis in hopes of improving the long-term outcome of all MFS patients.