Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome.
OBJECTIVE
Loeys-Dietz syndrome (LDS) is characterized by acute aortic dissection (AAD) at aortic diameters below thresholds for intervention in patients with Marfan syndrome (MFS). The aim was to evaluate the outcome of LDS patients primarily treated as having MFS.


METHODS
We analysed 68 consecutive patients who underwent surgery between 1995 and 2007 under the assumption of having MFS before retrospectively being screened for LDS when genetic testing became available. These patients were followed up until 2013, and underwent a total of 115 aortic surgeries.


RESULTS
Genetic testing was performed in 76% of the patients. Sixty per cent of these patients were positive for FBN1 mutations associated with MFS, 20% had no FBN1 mutation and 17% harboured TGFBR1/2 mutations associated with LDS. Mean follow-up was 12.7 ± 7 years. All-cause 30-day, 6-month and 1-year mortality rates were 2.9, 4.4 and 7.3%, respectively. Interestingly, initial presentation with AAD did not differ between LDS and MFS (33 vs 37%, P = 0.48) nor did long-term mortality compared with MFS patients (11 vs 16%, P = 1.0) or within MFS subgroups (FBN1 positive 13%, P = 1.0; FBN1 negative 10%, P = 1.0; not tested 25%, P = 0.62). There was no difference in the need for secondary total arch replacement between LDS and MFS patients (11 vs 14%, P = 1.0), nor within MFS subgroups (FBN1 positive 16%, P = 1.0; FBN1 negative 10%, P = 1.0; not tested 13%, P = 1.0). Total aortic replacement became necessary in 22% of LDS compared with 12% of MFS patients (P = 0.6) and did not differ significantly between MFS subgroups.


CONCLUSIONS
Although early surgical intervention in LDS is warranted to avoid AAD, the current data suggest that once the diseased segment is repaired, there seems to be no additional burden in terms of mortality or reoperation rate compared with that in MFS patients, with or without confirmed FBN1 mutation.
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland.
Florian S
FS
Schoenhoff
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland.
Christoph
C
Mueller
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland.
Martin
M
Czerny
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland Center for Cardiovascular Genetics and Gene Diagnostics, Zurich, Switzerland.
Gabor
G
Matyas
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland.
Alexander
A
Kadner
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland.
Juerg
J
Schmidli
Department of Cardiovascular Surgery, University Hospital Berne, Berne, Switzerland thierry.carrel@insel.ch.
Thierry
T
Carrel
D000328:Adult; D000784:Aortic Dissection / Q000601:surgery; D001011:Aorta / Q000601:surgery*; D001014:Aortic Aneurysm / Q000601:surgery; D006348:Cardiac Surgical Procedures / Q000009:adverse effects / Q000379:methods*; D006801:Humans; D053208:Kaplan-Meier Estimate; D055947:Loeys-Dietz Syndrome / Q000601:surgery*; D008382:Marfan Syndrome / Q000601:surgery*; D008875:Middle Aged; D012189:Retrospective Studies; D016896:Treatment Outcome; D055815:Young Adult
Acute aortic dissection; Aortic surgery; Connective tissue disease; Loeys–Dietz syndrome; Marfan syndrome