Heritable connective tissue disorders are present in a notable proportion of patients with spontaneous cervical artery dissections, but the underlying arteriopathy is heterogeneous and often does not fit known syndromes.
Supports connective tissue evaluation in spontaneous cervical artery dissection; leaves open broader genetic characterization of heterogeneous phenotypes.
We prospectively evaluated 15 consecutive patients with spontaneous cervical artery dissections. Three patients (20%) had a heritable connective tissue disorder, each with a unique phenotype. None of these patients met the criteria of any of the named syndromes, and collagen and fibrillin analyses were normal. Heritable connective tissue disorders are common among patients with spontaneous cervical artery dissections, but, despite intensive investigations, the type of disorder usually cannot be identified. The underlying arteriopathy in cervical artery dissections is likely to be heterogeneous.
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Schievink et al. (1998) studied this question.
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