It is well known that there is a whole spectrum of connective tissue disorders presenting with increased arterial tortuosity, including arterial tortuosity syndrome caused by the mutation of SLC2A10 gene [19], Loeys-Dietz syndrome with different mutations in genes encoding proteins involved in the TGF-β signaling (TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2 or SMAD3) [20] and autosomal recessive cutis laxa type IB caused by the mutation of FBLN4 gene [21]. Here, EFEMP2 is linked to connective tissue disorder.