title: Spontaneous rupture of an aneurysm of the right subclavian artery as a first presentation of Ehlers Danlos syndrome in a 15-year old boy.
abstract: We report a case of a spontaneous rupture of a right subclavian aneurysm in a 15 year-old patient. This ruptured aneurysm was successfully treated in an endovascular manner by placing a covered stent-graft in the right subclavian artery via right brachial access. Subsequent work-up by skin biopsy and fibroblast culture and by DNA-screening revealed the diagnosis of Ehlers Danlos type IV. Meanwhile, the patient developed twice a spontaneous pneumothorax, treated with thoracoscopic pleurodesis. This article provides a clear overview of the clinical and genetic characteristics of a case of Ehlers Danlos type IV and illustrates the importance of avoiding surgery in patients with connective tissue disease because of the high risk of perioperative complications.
authors.affiliation: Department of Cardiovascular and Thoracic Surgery, Imelda Hospital, Bonheiden, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verbert
authors.forename: J
authors.initials: J
authors.lastname: Verbist
authors.forename: P
authors.initials: P
authors.lastname: Peeters
authors.forename: H
authors.initials: H
authors.lastname: Deferm
authors.forename: L
authors.initials: L
authors.lastname: Haenen
mesh_terms: D000293:Adolescent; D017542:Aneurysm, Ruptured / Q000000981:diagnostic imaging / Q000209:etiology*; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011030:Pneumothorax / Q000150:complications; D012422:Rupture, Spontaneous; D013348:Subclavian Artery / Q000000981:diagnostic imaging; D014057:Tomography, X-Ray Computed