Next Generation Sequencing Analysis of Patients with Spontaneous Dissection of Cervical Arteries

Inclusion criteria

• Adult age (≥18 years);
• Presence of a dissection of one or more cervical arteries (carotid or vertebrobasilar district), defined as the finding, on an appropriate radiological examination (CT and/or MRI of the neck and brain district with/without contrast medium and/or digital subtraction angiography and/or echocolordoppler of the epiaortic vessels) of "intramural hematoma, pseudoaneurysmal dilation, intimal flap, double lumen, long tapering stenosis or occlusion ≥2 cm above the carotid bifurcation with finding of an aneurysmal dilation or a long tapering stenosis after recanalization of the vessel";
• At least one or more of the following criteria:

• Radiological evidence on CT and/or MRI with/without contrast and/or digital subtraction angiography and/or color Doppler ultrasound of vessel wall anomalies (such as aneurysms, dissections, tortuosity, ectasia or vascular stenosis) in one or more vascular districts in addition to that of the known dissection;
• Family history of:

• vessel dissections and/or sudden death and/or cerebrovascular or cardiovascular diseases at a young age;
• spontaneous perforation of internal organs and/or dehiscence and/or laxity of connective tissue (spontaneous prolapses);
• dysmorphological abnormalities at the clinical examination (including Beighton score ≥5 or Marfan score ≥7), laboratory and/or radiological findings suggestive of connective tissue disease or other genetic condition known to be associated with the development of aneurysms or alterations of the vessel wall;
• Written informed consent

Exclusion criteria

• Recent history of trauma clearly related in type, location and dynamics to the development of dissection;
• Iatrogenic dissection following endovascular procedure;
• Exclusively intracranial dissection;
• Fibromuscular dysplasia.