Long term follow-up of Marfan Syndrome - experience o an adult congenital heart disease centre

Background: Marfan Syndrome (MFS) is one of the most common connective tissue disorders. The aim of this study was to characterize an adult population with MFS and evaluate its long term prognosis. Methods: A retrospective analysis of adult patients with MFS followed up during the past 40 years in a tertiary congenital heart disease outpatient clinic was performed. Survival analysis was performed according to different parameters, and survival curves were compared using the log-rank test. Results: A total of 62 MFS patients were followed up for a mean period of 12 years (47% male; mean age, 39 years). The baseline mean aortic root diameter (ARD) at the Valsalva sinus was 42.4 +/- 10.3 mm, with 15% of patients having moderate-to-severe aortic regurgitation and seven patients with acute aortic syndrome. The Bentall procedure was the most commonly performed surgical technique, and five patients required re-operation. Of the 17 pregnancies, 29% developed fetal complications; however, there was no maternal morbidity or mortality. A total of ten deaths occurred at a mean age of 52 years. Patients with an ARD <= 45 mm had a significantly lower all-cause mortality rate than patients with 45 < ARD <= 50 mm or with ARD > 50 mm (P = 0.004 and P < 0.001, respectively). Heart failure symptoms were associated with a worse outcome (P = 0.041), while the presence of extracardiac involvement had a protective effect (P < 0.001). Conclusion: MFS-related aortopathy is associated with high morbidity rates. In the overall population, an ARD > 45 mm at the time of diagnosis was associated with higher mortality during follow-up.