Cargando…

Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age

Purpose: The study sought to estimate the prevalence of primary non-aortic lesions (PNAL) unrelated to extension of aortic dissection (AD) in a cohort of patients with Marfan syndrome (MFS). Methods: Adult patients presenting with pathogenic FBN1 mutations and an available pan-aortic contrast-enhanc...

Descripción completa

Detalles Bibliográficos
Autores principales: Sénémaud, Jean, Gaudry, Marine, Jouve, Elisabeth, Blanchard, Arnaud, Milleron, Olivier, Dulac, Yves, Olivier-Faivre, Laurence, Stephan, Dominique, Odent, Sylvie, Lanéelle, Damien, Dupuis-Girod, Sophie, Jondeau, Guillaume, Bal-Theoleyre, Laurence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141376/
https://www.ncbi.nlm.nih.gov/pubmed/37109238
http://dx.doi.org/10.3390/jcm12082902
_version_ 1785033372738781184
author Sénémaud, Jean
Gaudry, Marine
Jouve, Elisabeth
Blanchard, Arnaud
Milleron, Olivier
Dulac, Yves
Olivier-Faivre, Laurence
Stephan, Dominique
Odent, Sylvie
Lanéelle, Damien
Dupuis-Girod, Sophie
Jondeau, Guillaume
Bal-Theoleyre, Laurence
author_facet Sénémaud, Jean
Gaudry, Marine
Jouve, Elisabeth
Blanchard, Arnaud
Milleron, Olivier
Dulac, Yves
Olivier-Faivre, Laurence
Stephan, Dominique
Odent, Sylvie
Lanéelle, Damien
Dupuis-Girod, Sophie
Jondeau, Guillaume
Bal-Theoleyre, Laurence
author_sort Sénémaud, Jean
collection PubMed
description Purpose: The study sought to estimate the prevalence of primary non-aortic lesions (PNAL) unrelated to extension of aortic dissection (AD) in a cohort of patients with Marfan syndrome (MFS). Methods: Adult patients presenting with pathogenic FBN1 mutations and an available pan-aortic contrast-enhanced CTA in eight French MFS clinics from April to October 2018 were included. Clinical and radiological data, particularly the presence of aortic lesions and PNAL (including aneurysm and ectasia), were retrospectively analyzed. Results: Out of 138 patients, 28 (20.3%) had PNAL. In total, 27 aneurysms in 13 patients and 41 ectasias in 19 patients were reported mainly in the subclavian, iliac, and vertebral segments. Four patients (31%) with aneurysms and none with ectasia required prophylactic intervention during follow-up (median: 46 months). In multivariate analysis, factors associated with PNAL were history of AD (OR = 3.9, 95%CI: 1.3–12.1, p = 0.018), history of previous descending aortic surgery (OR = 10.3, 95%CI: 2.2–48.3, p = 0.003) and age (per 10 years OR = 1.6, 95%CI: 1.1–2.4, p = 0.008). Conclusion: PNAL is not rare in MFS patients with evolutive aortic disease. Natural history may differ between aneurysms and ectasia, emphasizing the need for standardized definitions and systematic screening for PNAL.
format Online
Article
Text
id pubmed-10141376
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-101413762023-04-29 Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age Sénémaud, Jean Gaudry, Marine Jouve, Elisabeth Blanchard, Arnaud Milleron, Olivier Dulac, Yves Olivier-Faivre, Laurence Stephan, Dominique Odent, Sylvie Lanéelle, Damien Dupuis-Girod, Sophie Jondeau, Guillaume Bal-Theoleyre, Laurence J Clin Med Article Purpose: The study sought to estimate the prevalence of primary non-aortic lesions (PNAL) unrelated to extension of aortic dissection (AD) in a cohort of patients with Marfan syndrome (MFS). Methods: Adult patients presenting with pathogenic FBN1 mutations and an available pan-aortic contrast-enhanced CTA in eight French MFS clinics from April to October 2018 were included. Clinical and radiological data, particularly the presence of aortic lesions and PNAL (including aneurysm and ectasia), were retrospectively analyzed. Results: Out of 138 patients, 28 (20.3%) had PNAL. In total, 27 aneurysms in 13 patients and 41 ectasias in 19 patients were reported mainly in the subclavian, iliac, and vertebral segments. Four patients (31%) with aneurysms and none with ectasia required prophylactic intervention during follow-up (median: 46 months). In multivariate analysis, factors associated with PNAL were history of AD (OR = 3.9, 95%CI: 1.3–12.1, p = 0.018), history of previous descending aortic surgery (OR = 10.3, 95%CI: 2.2–48.3, p = 0.003) and age (per 10 years OR = 1.6, 95%CI: 1.1–2.4, p = 0.008). Conclusion: PNAL is not rare in MFS patients with evolutive aortic disease. Natural history may differ between aneurysms and ectasia, emphasizing the need for standardized definitions and systematic screening for PNAL. MDPI 2023-04-17 /pmc/articles/PMC10141376/ /pubmed/37109238 http://dx.doi.org/10.3390/jcm12082902 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Sénémaud, Jean
Gaudry, Marine
Jouve, Elisabeth
Blanchard, Arnaud
Milleron, Olivier
Dulac, Yves
Olivier-Faivre, Laurence
Stephan, Dominique
Odent, Sylvie
Lanéelle, Damien
Dupuis-Girod, Sophie
Jondeau, Guillaume
Bal-Theoleyre, Laurence
Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title_full Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title_fullStr Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title_full_unstemmed Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title_short Primary Non-Aortic Lesions Are Not Rare in Marfan Syndrome and Are Associated with Aortic Dissection Independently of Age
title_sort primary non-aortic lesions are not rare in marfan syndrome and are associated with aortic dissection independently of age
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10141376/
https://www.ncbi.nlm.nih.gov/pubmed/37109238
http://dx.doi.org/10.3390/jcm12082902
work_keys_str_mv AT senemaudjean primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT gaudrymarine primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT jouveelisabeth primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT blanchardarnaud primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT milleronolivier primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT dulacyves primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT olivierfaivrelaurence primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT stephandominique primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT odentsylvie primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT laneelledamien primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT dupuisgirodsophie primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT jondeauguillaume primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage
AT baltheoleyrelaurence primarynonaorticlesionsarenotrareinmarfansyndromeandareassociatedwithaorticdissectionindependentlyofage