Hereditary connective tissue disorders in unselected patients with spontaneous cervical artery dissection: a targeted next generation sequencing approach and systematic review.
Lorenzo Corradi, Chiara Ferraro, Fiammetta Tesi et al.
✦ AI-curated · Sources linked
In 30 seconds
This study investigated the prevalence of clinically relevant genetic variants in 183 unselected patients with spontaneous cervical artery dissection (sCeAD) using targeted next-generation sequencing. The findings revealed that 1.1% of patients carried known disease-causing variants, while 16.4% had variants of uncertain significance. The study suggests that genetic testing should be reserved for individuals with a high likelihood of hereditary connective tissue disorders.
Key findings
- 1.1% of patients carried known disease-causing variants in COL3A1 and ABCC6.
- 16.4% of patients had variants of uncertain significance.
- Prevalence of disease-causing variants ranged from 0.4% to 23.4% in different studies.
Why it matters
Understanding the genetic underpinnings of spontaneous cervical artery dissection can help identify patients at risk for hereditary connective tissue disorders, potentially guiding management and surveillance strategies.