Familial occurrence and heritable connective tissue disorders in cervical artery dissection

Area of Science:

• Neurology
• Genetics
• Vascular Medicine

Background:

• Cervical artery dissection (CeAD) is a primary cause of ischemic stroke in young and middle-aged adults.
• Understanding genetic predispositions like family history and inherited connective tissue disorders is crucial for CeAD risk assessment.

Purpose of the Study:

• To determine the frequency of family history of CeAD and inherited connective tissue disorders in a large CeAD patient cohort.
• To identify correlates associated with a family history of CeAD.

Main Methods:

• Data from 1,934 consecutive CeAD patients across 23 international centers (CADISP-plus consortium) were analyzed.
• Standardized protocols were used to assess family history of CeAD and inherited connective tissue disorders.
• Risk factors, baseline features, and 3-month outcomes were compared between patient groups.

Main Results:

• A family history of CeAD was reported in 1.0% of patients (17 families).
• Family history of CeAD correlated with carotid artery location and elevated cholesterol.
• Inherited connective tissue disorders, including vascular Ehlers-Danlos syndrome, were found in a small number of patients.

Conclusions:

• Symptomatic family history of CeAD and inherited connective tissue disorders are infrequent in CeAD patients.
• These findings suggest that CeAD is predominantly a multifactorial disease.
• Further research into genetic and environmental factors is warranted.