CC BY 4.0 · Aorta (Stamford) 2022; 10(S 01): A1-A56
DOI: 10.1055/s-0042-1750912
Presentation Abstracts

Arterial Disease Beyond The Aorta and Vascular Risk Assessment in Marfan Syndrome

Jean Senemaud
1   Bichat University Hospital, Paris, France
,
Marine Gaudry
2   La Timone University Hospital, Marseille, France
,
Arnaud Blanchard
2   La Timone University Hospital, Marseille, France
,
Olivier Milleron
1   Bichat University Hospital, Paris, France
,
Yves Dulac
3   Centre de reference constitutif pour le syndrome de Marfan et apparentes, Toulouse, France
,
Laurence Olivier-Faivre
4   Centre de competence pour le syndrome de Marfan et apparentes, Dijon, France
,
Dominique Stephan
5   Centre de competence pour le syndrome de Marfan et apparentes, Strasbourg, France
,
Sylvie Odent
6   Centre de competence pour le syndrome de Marfan et apparentes, Rennes, France
,
Damien Lanéelle
7   Centre de competence pour le syndrome de Marfan et apparentes, Caen, France
,
Sophie Dupuis-Girod
8   Centre de competence pour le syndrome de Marfan et apparentes, Lyon, France
,
Guillaume Jondeau
1   Bichat University Hospital, Paris, France
,
Laurence Bal
2   La Timone University Hospital, Marseille, France
› Author Affiliations
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    Objectives: To estimate the prevalence of primary peripheral arterial lesions (PPAL) unrelated to extension of aortic dissection and their clinical significance in a cohort of patients with Marfan syndrome (MFS).

    Design: Retrospective multicenter study.

    Methods: Adult patients presenting with pathogenic FBN1 mutations with an available pan-aortic contrast-enhanced computed tomographic angiogram evaluation were included in eight French MFS clinics from October 2007 to April 2018. Clinical, radiological, and follow-up data, particularly the presence of aortic lesions and PPAL (including aneurysm and ectasia), were analyzed.

    Results: Out of 138 patients, 28 (20.3%) presented with PPAL; they were older (44 versus 34 years, p = 0.001) and had a more frequent history of aortic surgery (50% versus 11%, p < 0.001) than patients without PPAL Twenty-seven aneurysms in 13 patients and 41 ectasias in 19 patients were reported, mainly in the subclavian, iliac, and vertebral segments. The mean follow-up duration was 46 months (interquartile range, 53 months). Four patients (31%, 4/13) with aneurysms and none with ectasia required prophylactic intervention. Time-to-event analysis showed that patients with PPAL were more likely to have an aortic dissection (AD) (p = 0.003) at an earlier age, particularly in men (p = 0.01), than those without PPAL. In multivariate analysis, AD was associated with PPAL (hazard ratio 2.47, 95% confidence interval 1.3–4.7, p = 0.006) and male sex (hazard ratio 1.99, 95% confidence interval 1.03–3.8, p = 0.04).

    Conclusion: PPAL is frequently reported in MFS patients with FBN1 mutations. Clinical patterns and evolution may differ between peripheral aneurysms and ectasia, emphasizing the need for standardized definitions and systematic screening of PPAL in MFS FBN1-positive patients.


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    No conflict of interest has been declared by the author(s).

    Publication History

    Article published online:
    10 June 2022

    © 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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