title: Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype.
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.
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Stritch School of Medicine, Loyola University Chicago, Maywood, IL.
authors.forename: Rick
authors.initials: R
authors.lastname: Gaines
authors.affiliation: Division of Clinical Genetics, Department of Pediatrics, Advocate Children's Hospital, Park Ridge, IL.
authors.forename: Brad T
authors.initials: BT
authors.lastname: Tinkle
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Stritch School of Medicine, Loyola University Chicago, Maywood, IL.
authors.forename: Pegge M
authors.initials: PM
authors.lastname: Halandras
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Stritch School of Medicine, Loyola University Chicago, Maywood, IL.
authors.forename: Omar
authors.initials: O
authors.lastname: Al-Nouri
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Stritch School of Medicine, Loyola University Chicago, Maywood, IL.
authors.forename: Paul
authors.initials: P
authors.lastname: Crisostomo
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Stritch School of Medicine, Loyola University Chicago, Maywood, IL. Electronic address: jaecho@lumc.edu.
authors.forename: Jae S
authors.initials: JS
authors.lastname: Cho
mesh_terms: D015746:Abdominal Pain / Q000209:etiology; D059787:Acute Pain / Q000209:etiology; D000328:Adult; D000784:Aortic Dissection / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D017542:Aneurysm, Ruptured / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D019917:Blood Vessel Prosthesis Implantation; D024042:Collagen Type I / Q000235:genetics; D000090602:Collagen Type I, alpha 1 Chain; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D017543:Iliac Aneurysm / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D008297:Male; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D012422:Rupture, Spontaneous; D012769:Shock / Q000209:etiology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain