Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome

James M Dittman; Nallely Saldana-Ruiz; Karina Newhall; Peter H Byers; Benjamin W Starnes; Sherene Shalhub

doi:10.1016/j.jvscit.2023.101194

Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome

J Vasc Surg Cases Innov Tech. 2023 Apr 26;9(2):101194. doi: 10.1016/j.jvscit.2023.101194. eCollection 2023 Jun.

Authors

James M Dittman¹, Nallely Saldana-Ruiz¹, Karina Newhall², Peter H Byers³, Benjamin W Starnes¹, Sherene Shalhub^{1

4}

Affiliations

¹ Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WA.
² Division of Vascular Surgery, Department of Surgery, University of Rochester, Rochester, NY.
³ Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA.
⁴ Division of Vascular and Endovascular Surgery, Department of Surgery, Oregon Health & Science University, Portland, OR.

Abstract

Vascular Ehlers-Danlos syndrome (VEDS) is rare, affecting an estimated 1 per 50,000 individuals, and is associated with abdominal aortic aneurysms (AAAs), among other arteriopathies. We present three patients with genetically confirmed VEDS who underwent successful open AAA surgical repair and demonstrate that elective open AAA repair with careful tissue manipulation is safe and feasible for patients with VEDS. These cases also demonstrate that the VEDS genotype is associated with the aortic tissue quality (genotype-surgical phenotype correlation), with the most friable tissue encountered in the patient with a large amino acid substitution and the least friable tissue in the patient with a null (haploinsufficiency) variant.

Keywords: Abdominal aortic aneurysm; COL3A1; Connective tissue disorder; Genetic aortopathy; Vascular Ehlers-Danlos syndrome.

Publication types

Case Reports