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

Abstract

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. 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). 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). 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.