Surgical experience with aggressive aortic pathologic process in Loeys-Dietz syndrome

Abstract

Background: Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder (CTD) caused by mutations in transforming growth factor-beta receptor (TGFBR)1 and TGFBR2. Surgical outcomes of aortic repair in patients with LDS are poorly known.

Methods: We enrolled 16 patients with TGFBR mutations identified by gene analysis in this study. Between 1993 and 2011, they underwent 41 aortic surgical procedures. Ten patients (group D: dissection group) underwent aortic repair for acute or chronic aortic dissection as a first surgical intervention, and 6 patients (group N: nondissection group) underwent surgical treatment for aortic root dilatation. The mean follow-up period was 103.7 ± 92.3 months (range, 2- 276 months).

Results: There were no in-hospital deaths. In group N, valve-sparing root replacement (VSRR) was performed in all patients. The residual aorta in 9 patients (90%) from group D required further repairs, 3 times on average. Moreover, in 4 patients (40%), the aorta was entirely replaced in serial procedures. In group N, aortic dissection occurred in only 1 patient (17%). The aortic event-free rates at 5 years were 40% in group D and 80% in group N, respectively (p = 0.819). One late death due to arrhythmia occurred 1 month after VSRR. The cumulative survival rates at 5 years were 100% in group D and 83% in group N, respectively (p = 0.197).

Conclusions: Surgical outcomes for patients with LDS were satisfactory. Once aortic dissection occurred, the aorta expanded rapidly, requiring further operations. Therefore, early surgical intervention may improve prognosis by preventing a fatal aortic event.