Progressive aortic root dilatation, spontaneous rupture of large arteries and intracranial aneurysms have only rarely been reported in classical EDS patients [39–41], and increased tissue vascularity is not a feature of this disorder, suggesting that EDS caused by the heterozygous THBS2 pathogenic variant represents a distinct clinical entity. Here, THBS2 is linked to Dilatation of the cerebral artery.