Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos syndrome.
We report case of a subclavian artery pseudoaneurysm in a patient with type IV Ehlers-Danlos Syndrome. A 16-year-old boy underwent successful repair of a subclavian artery pseudoaneurysm that occurred after a cervical hyperextension injury. Subsequent workup included skin biopsy and fibroblast culture, which were consistent with a diagnosis of type IV Ehlers-Danlos Syndrome. This condition is a dominantly inherited connective tissue disorder, which in this patient was found to be caused by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular characteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed.
Rossi
P I
PI
Department of Surgery, North Shore University Hospital/New York University School of Medicine, Manhasset 11030, USA.
Scher
L A
LA
Friedman
S G
SG
Hall
M H
MH
Boxer
R A
RA
Bialer
M G
MG
D000293:Adolescent; D017541:Aneurysm, False / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery; D001706:Biopsy; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D019838:Neck Injuries / Q000150:complications*; D017354:Point Mutation; D011347:Procollagen / Q000235:genetics; D013348:Subclavian Artery; D014952:Wrestling / Q000293:injuries*
D011347:Procollagen