In this review, we comprehensively analyze the existing literature on the association between connective tissue disorders (CTDs) and carotid artery dissection (CAD), focusing on proven gene and protein mutations. By synthesizing evidence from various studies, we aim to provide a clearer understanding of the underlying mechanisms and potential genetic factors involved in the development of this condition. CAD, a leading cause of stroke in young adults, has been linked to CTDs such as Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome, all of which involve genetic mutations that weaken vascular connective tissues. The review reveals that mutations in genes like COL3A1, FBN1, TGFBR1 and TGFBR2 play a crucial role in the integrity of arterial wall. It discusses the significance of these findings in identifying individuals at risk and developing targeted treatment strategies. Moreover, the article highlights the significance of identifying mild connective tissue abnormalities in patients with spontaneous CAD and advocates for more extensive genetic studies to enhance our understanding of CAD's genetic architecture. By identification of unique protein expression profiles, future research may lead to improved diagnostic and therapeutic approaches for CAD linked to CTDs.

Keywords: carotid artery dissection; stroke in adults; connective tissue disorders; gene mutation; protein mutation