Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome
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 demon...
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| Format: | Article |
| Language: | English |
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Elsevier
2023-06-01
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| Series: | Journal of Vascular Surgery Cases and Innovative Techniques |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S246842872300103X |
| _version_ | 1827918526128586752 |
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| author | James M. Dittman, MD Nallely Saldana-Ruiz, MD, MPH Karina Newhall, MD Peter H. Byers, MD Benjamin W. Starnes, MD, FACS Sherene Shalhub, MD, MPH, FACS DFSVS |
| author_facet | James M. Dittman, MD Nallely Saldana-Ruiz, MD, MPH Karina Newhall, MD Peter H. Byers, MD Benjamin W. Starnes, MD, FACS Sherene Shalhub, MD, MPH, FACS DFSVS |
| author_sort | James M. Dittman, MD |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-03-13T03:43:51Z |
| format | Article |
| id | doaj.art-ac46eaf51f0e49aca8ebdb0624a70f44 |
| institution | Directory Open Access Journal |
| issn | 2468-4287 |
| language | English |
| last_indexed | 2024-03-13T03:43:51Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Vascular Surgery Cases and Innovative Techniques |
| spelling | doaj.art-ac46eaf51f0e49aca8ebdb0624a70f442023-06-23T04:43:45ZengElsevierJournal of Vascular Surgery Cases and Innovative Techniques2468-42872023-06-0192101194Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndromeJames M. Dittman, MD0Nallely Saldana-Ruiz, MD, MPH1Karina Newhall, MD2Peter H. Byers, MD3Benjamin W. Starnes, MD, FACS4Sherene Shalhub, MD, MPH, FACS DFSVS5Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WADivision of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WADivision of Vascular Surgery, Department of Surgery, University of Rochester, Rochester, NYDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WADivision of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WADivision of Vascular Surgery, Department of Surgery, University of Washington, Seattle, WA; Division of Vascular and Endovascular Surgery, Department of Surgery, Oregon Health & Science University, Portland, OR; Correspondence: Sherene Shalhub, MD, MPH, FACS, Division of Vascular and Endovascular Surgery, Oregon Health & Science University Heart and Vascular Service Line, Departments of Surgery and Molecular and Medical Genetics, Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, Mail Code OP11, Portland, OR 97239Vascular 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.http://www.sciencedirect.com/science/article/pii/S246842872300103XAbdominal aortic aneurysmCOL3A1Connective tissue disorderGenetic aortopathyVascular Ehlers-Danlos syndrome |
| spellingShingle | James M. Dittman, MD Nallely Saldana-Ruiz, MD, MPH Karina Newhall, MD Peter H. Byers, MD Benjamin W. Starnes, MD, FACS Sherene Shalhub, MD, MPH, FACS DFSVS Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome Journal of Vascular Surgery Cases and Innovative Techniques Abdominal aortic aneurysm COL3A1 Connective tissue disorder Genetic aortopathy Vascular Ehlers-Danlos syndrome |
| title | Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome |
| title_full | Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome |
| title_fullStr | Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome |
| title_full_unstemmed | Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome |
| title_short | Open repair of abdominal aortic aneurysms in patients with vascular Ehlers-Danlos syndrome |
| title_sort | open repair of abdominal aortic aneurysms in patients with vascular ehlers danlos syndrome |
| topic | Abdominal aortic aneurysm COL3A1 Connective tissue disorder Genetic aortopathy Vascular Ehlers-Danlos syndrome |
| url | http://www.sciencedirect.com/science/article/pii/S246842872300103X |
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