Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome.

Schönhoff, Florian; Mueller, Christoph; Czerny, Martin; Matyas, Gabor; Kadner, Alexander; Schmidli, Jürg; Carrel, Thierry (2014). Outcome of aortic surgery in patients with Loeys-Dietz syndrome primarily treated as having Marfan syndrome. European journal of cardio-thoracic surgery, 46(3), pp. 444-449. Oxford University Press 10.1093/ejcts/ezu002

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OBJECTIVES 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.

Item Type:

Journal Article (Original Article)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiovascular Surgery

UniBE Contributor:

Schönhoff, Florian; Czerny, Martin; Kadner, Alexander; Schmidli, Jürg and Carrel, Thierry

Subjects:

600 Technology > 610 Medicine & health

ISSN:

1010-7940

Publisher:

Oxford University Press

Language:

English

Submitter:

Sara Baumberger

Date Deposited:

20 Feb 2015 13:45

Last Modified:

26 Oct 2019 04:01

Publisher DOI:

10.1093/ejcts/ezu002

PubMed ID:

24499874

Uncontrolled Keywords:

Acute aortic dissection, Aortic surgery, Connective tissue disease, Loeys–Dietz syndrome, Marfan syndrome

BORIS DOI:

10.7892/boris.63386

URI:

https://boris.unibe.ch/id/eprint/63386

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