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 vessels with surprising frequency. An underlying arteriopathy is frequently suspected, but specific causes of vascular fragility are rarely identified. We describe a 35-year-old woman who developed multiple cervical artery dissections after scuba diving. She had no stigmata of connective 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 procollagen revealed a point mutation in one allele, resulting in substitution 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 phenotypic variant of osteogenesis imperfecta identified in our patient, should be considered in the differential diagnosis of unexplained cervical artery dissection.
Mayer
S A
SA
Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY, USA.
Rubin
B S
BS
Starman
B J
BJ
Byers
P H
PH
D000328:Adult; D000409:Alanine; D000595:Amino Acid Sequence; D000784:Aortic Dissection / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D002340:Carotid Artery Diseases / Q000235:genetics* / Q000473:pathology; D003094:Collagen / Q000235:genetics*; D005260:Female; D005998:Glycine; D006801:Humans; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D017354:Point Mutation
D003094:Collagen; D000409:Alanine; D005998:Glycine