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 successfu l repair of a subclavian artery pseudoaneurysm that occurred after a c ervical 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 c onnective tissue disorder, which in this patient was found to be cause d by a spontaneous point mutation in the COL3A1 gene that encodes the chains of type III procollagen. The clinical, genetic, and molecular c haracteristics of type IV Ehlers-Danlos Syndrome are briefly reviewed.