Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype

Gaines, Rick; Tinkle, Brad T.; Halandras, Pegge M.; Al-Nouri, Omar; Crisostomo, Paul; Cho, Jae S.

doi:10.1016/j.avsg.2014.10.036

Cited by 34Connective tissue disorders researchAortic Disease and Treatment ApproachesAortic aneurysm repair treatments

Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype

Gaines, Rick, Tinkle, Brad T., Halandras, Pegge M., Al-Nouri, Omar, Crisostomo, Paul, Cho, Jae S.·2015·Annals of Vascular Surgery

DOI 10.1016/j.avsg.2014.10.036

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Abstract

Unlike vascular Ehlers-Danlos syndrome (EDS), classic EDS is rarely associated with vascular manifestation. We report the case of a 39-year-old man who presented with acute abdominal pain. At the time of presentation, the patient was in hypovolemic shock, and computed tomography angiogram demonstrated common iliac artery dissection with rupture. He underwent an attempted endovascular repair that was converted to an open repair of a ruptured right common iliac artery dissection. Subsequent genetic testing revealed a substitution of arginine for cysteine in type I collagen, COL1A1 exon 14 c.934C>T mutation, consistent with a rare variant of classic EDS.

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Patients with the COL1A1 p.(Arg312Cys) mutation are particularly at risk for vascular events.
“Patients with the p.(Arg312Cys) mutation are particularly at risk for vascular events, highlighting the benefit of molecular confirmation in classical EDS patients for management purposes.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Gaines et al., 2015
The COL1A1 p.(Arg312Cys) mutation has subsequently been identified in two other individuals with EDS and complications of vascular fragility.
“The p.(Arg312Cys) mutation has subsequently been identified in two other individuals with EDS and complications of vascular fragility [Ritelli et al., 2013;Gaines et al., 2015].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Gaines et al., 2015

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Common Iliac Artery Aneurysm and Spontaneous Dissection with Contralateral Iatrogenic Common Iliac Artery Dissection in Classic Ehlers-Danlos Syndrome
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Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation
Borck, G., Beighton, P., Wilhelm, C., Kohlhase, J., & Kubisch, C. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33541 · Cited by 59 · see citing works
Surgical Repair of Spontaneous Ruptured Dissection of the Left Common Iliac Artery in a Patient with Vascular Ehlers-Danlos Syndrome
Yoshida, K., Fukunaga, N., & Koyama, T. (2018) · Japanese Journal of Cardiovascular Surgery · doi:10.4326/jjcvs.47.78

Authors: Gaines, R., Tinkle, B. T., Halandras, P. M., Al-Nouri, O., Crisostomo, P., & Cho, J. S.
Affiliations: Loyola University Chicago (US)
Advocate Children's Hospital (US)
Corresponding author: Cho, Jae S.
ORCID: Tinkle, Brad T.
Al-Nouri, Omar
Cho, Jae S.
Venue: Annals of Vascular Surgery
Publisher: Elsevier BV
Published: 2015-04
Volume: 29
Issue: 3
Pages: 595.e11-595.e14
ISSN: 0890-5096 (ISSN-L)
DOI: 10.1016/j.avsg.2014.10.036
OpenAlex: W1999505423
Cited by: 34
References: 15
Citations by year: 2025: 1 · 2024: 2 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 6 · 2018: 4 · 2017: 5 · 2016: 4 · 2015: 1
FWCI: 3.19
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
Locations: Annals of Vascular Surgery (publishedVersion)
PubMed (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic Disease and Treatment Approaches
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Aortic aneurysm repair treatments
Keywords: arterial rupture, hypovolemic shock, acute abdominal pain, endovascular repair, open surgical repair, COL1A1 mutation, type I collagen, genetic testing, vascular Ehlers-Danlos syndrome
MeSH terms: Collagen Type I, alpha 1 Chain, Adult, Aortic Dissection, DNA Mutational Analysis, Ehlers-Danlos Syndrome, Humans, Male, Mutation, Phenotype, Risk Factors, Rupture, Spontaneous, Shock, Tomography, X-Ray Computed, Abdominal Pain, Treatment Outcome, Aneurysm, Ruptured, Iliac Aneurysm, Blood Vessel Prosthesis Implantation, Genetic Predisposition to Disease, Collagen Type I, Acute Pain

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Spontaneous Ruptured Dissection of the Right Common Iliac Artery in a Patient with Classic Ehlers–Danlos Syndrome Phenotype

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