In addition, the TGFBR2 c.1582C>T, p.(Arg528Cys) variant was also identified in a child with LDS including early onset aortic dilatation whose mother died soon after delivery due to aortic dissection, as well as in a young male with a clinical suspicion of LDS and family history of pectus excavatum (BpG, unpublished observations). Here, TGFBR2 is linked to dissection.