Furthermore, genetic variations along the TGFβ1 signalling pathway are associated with coronary artery aneurysm formation and aortic root dilation in Kawasaki diseases[60], whereas mutations in genes of TGFβ1 signalling pathway (TGFBR1, TGFBR2[61,62], and SMAD3[63]) or TGFβ1 inhibitor genes[64] are implicated in familial or syndromic forms of thoracic aortic aneurysms and dissection. The gene discussed is TGFB1; the disease is thoracic aortic aneurysm.