Management of the aortic arch in patients with syndromic heritable thoracic aortic disease.

Objectives Aim of this study was to examine the evolution of the aortic arch over time in patients with HTAD.Methods We screened all patients with Marfan syndrome (MFS) or Loeys-Dietz syndrome (LDS) who were seen at our HTAD clinic since 1995. Patients who had undergone aortic surgery were included in the present study. Patients were analysed based on (1) extent of aortic arch replacement, (2) history of aortic dissection and (3) outcome after secondary total aortic arch replacement (TAR).Results A cohort of 260 patients was identified of whom 165 patients with MFS (n = 138) and LDS (n = 27) had already undergone aortic surgery and were included in this study. LDS: Initial presentation was acute aortic dissection (AAD) in 5 (19%) patients, while 22 (81%) patients presented with aneurysmal disease. Only 2 patients required secondary TAR during follow-up. MFS: Initial presentation was AAD in 41 (30%) patients, while 97 (70%) presented with aneurysmal disease. Only 3% (n = 3) of the MFS patients without primary aortic arch replacement required a secondary TAR. There was significantly more secondary TAR in MFS patients with history of aortic dissection compared to those without (P = 0.019). However, there was no significant differences in rate of downstream aortic events in MFS patients with secondary TAR compared to those without (P = 0.089). There was no significant difference in mortality in MFS patients with secondary TAR compared to those without (P = 0.366).Conclusions Concomitant prophylactic TAR in MFS patients undergoing elective root repair is not justified. One out of 4 MFS patients with history of AAD will have to undergo secondary TAR during follow-up. MFS patients undergoing secondary TAR do not have worse survival compared to those without. Current data does not provide enough evidence for strong recommendations regarding the need for prophylactic aortic arch replacement in LDS patients.