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. 2023 Mar;103(3):261-267.
doi: 10.1111/cge.14245. Epub 2022 Oct 24.

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review

Mahsima Shabani  1   2 , Ashkan Abdollahi  1 , Bobby K Brar  3 , Gretchen L MacCarrick  3 , Bharath Ambale Venkatesh  4 , Joao A C Lima  1   4 , Joann N Bodurtha  3
Affiliations

Vascular aneurysms in Ehlers-Danlos syndrome subtypes: A systematic review

Mahsima Shabani et al. Clin Genet. 2023 Mar.

Abstract

Aneurysmal lesions are commonly seen in Ehlers-Danlos Syndrome (EDS). To better identify the regional and vessel-specific spectrum of aneurysms in different subtypes of EDS, we performed a systematic review. We searched Medline for relevant studies from 1963 to April 2022. Studies providing a report of any EDS subtype by genetic diagnosis, histologic analysis, or clinical criteria were included. A total of 448 patients from 220 studies were included. 720 vessel-specific aneurysms were reported: 386 in the abdominopelvic area, 165 in the intracranial region, 98 in the thorax, 2 in the extremities, and 6 in the venous system. In 27 out of the 65 patients with ruptured aneurysms, the ruptured aneurysm was the initial presentation. Multiple aneurysms were present in 163 out of 249 patients who had been systematically evaluated for other locations of aneurysms. The head and neck and abdominopelvic regions are two potential foci for aneurysm formation in patients with EDS. The aneurysm development in EDS is not confined to arteries; the venous system and cardiac septa may also be affected. Many patients develop multiple aneurysms, either at the time of the initial presentation or throughout their lifetime and aneurysm formation or rupture may be the first presentation of EDS.

Keywords: Ehlers-Danlos syndrome; aneurysm; aortic aneurysm; aortic rupture; collagen diseases; coronary aneurysm; heart aneurysm; iliac aneurysm; intracranial aneurysm.

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Conflict of interest statement

CONFLICT OF INTEREST

The authors declare no conflicts of interest in preparing this article.

Figures

FIGURE 1
FIGURE 1
Study selection algorithm
FIGURE 2
FIGURE 2
Regional and vessel-specific distribution of aneurysms in patients with EDS. The y axis provides the number of reported cases with the associated aneurysm
FIGURE 3
FIGURE 3
Vessel specific number of reported aneurysms. The background image is a non-contrast MRA (Created with BioRender.com)
See this image and copyright information in PMC

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