Internal Carotid Artery, Spontaneous Dissection Of

Inheritance

Mokri et al. (1987) described spontaneous dissection of the extracranial internal carotid artery in a mother and daughter and in a father and son. They suspected that fibromuscular dysplasia might underlie a dissection. Fibromuscular dysplasia (135580) is known to have familial clustering.

Neau et al. (1995) described spontaneous dissection of the internal carotid in 2 sisters, neither of whom showed intimal irregularities suggestive of fibromuscular dysplasia or other arteriopathies. Their mother had died from apoplectic cerebral stroke at age 40. Neau et al. (1995) also described a sister and a brother with spontaneous dissection of vertebral arteries. There was no evidence of fibromuscular dysplasia on successive cervical and renal angiograms.

Schievink (2001) commented on the significant evidence for genetic factors in spontaneous dissection of the carotid and vertebral arteries. Foremost among the heritable disorders of connective tissue associated with this complication is Ehlers-Danlos syndrome type IV (130050); Marfan syndrome (154700) is another (Schievink et al., 1994).

Volker et al. (2008) reported 2 monozygotic male twin pairs, in which 1 twin of each pair had a spontaneous cervical artery dissection at ages 56 and 49, respectively. Superficial temporal artery biopsies showed structural aberrations along the medial-adventitial border in both twin pairs. Both sets of twins showed erythrocytes at various stages of degradation outside of the vasa vasorum. The findings suggested a genetic component in the pathogenesis of spontaneous cervical artery dissection and that the disorder likely results from an underlying arteriopathy.

Molecular Genetics

Exclusion Studies

Grond-Ginsbach et al. (2002) searched for mutations in the COL5A2 gene (120190) in 10 patients with spontaneous cervical artery dissections. Although they identified mutations in 3 of the patients, none was thought to be disease causing. They concluded that COL5A2 is unlikely to be a major candidate gene for spontaneous cervical artery dissections.