SPONTANEOUS MULTIVESSEL CERVICAL ARTERY DISSECTION IN A PATIENT WITH A SUBSTITUTION OF ALANINE FOR GLYCINE (G13A) IN THE ALPHA-1(I) CHAIN OF TYPE-I COLLAGEN

Cervical artery dissection occurs spontaneously and in multiple vessel s with surprising frequency. An underlying arteriopathy is frequently suspected, but specific causes of vascular fragility are rarely identi fied. We describe a 35-year-old woman who developed multiple cervical artery dissections after scuba diving. She had no stigmata of connecti ve tissue disease apart from bluish sclerae, and no family history of arterial dissection or congenital musculoskeletal disease. Analysis of the COL1A1 gene that encodes the pro alpha 1(I) chains of type I proc ollagen revealed a point mutation in one allele, resulting in substitu tion of alanine for glycine (G13A) in about half the alpha 1(I) chains of type I collagen. Genetic disorders of collagen, such as the mild p henotypic variant of osteogenesis imperfecta identified in our patient , should be considered in the differential diagnosis of unexplained ce rvical artery dissection.