title: 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.
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan. iba@hsp.ncvc.go.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Iba
authors.forename: Kenji
authors.initials: K
authors.lastname: Minatoya
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Matsuda
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Sasaki
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tanaka
authors.forename: Hiroko
authors.initials: H
authors.lastname: Morisaki
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.forename: Junjiro
authors.initials: J
authors.lastname: Kobayashi
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Ogino
mesh_terms: D000328:Adult; D001014:Aortic Aneurysm / Q000601:surgery; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000473:pathology / Q000601:surgery*; D008297:Male; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult