Long term follow-up of Marfan Syndrome - experience of 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.