TGFB3 and Loeys-Dietz syndrome: The test identified an already known, heterozygote, pathogenetic variant in TGFB3 gene (c899G > A p.Arg300Gln) causative for Loeys-Dietz syndrome The segregation analysis revealed that the variant was inherited by the mother and also present in the patient’s brother confirming the diagnosis of Loeys-Dietz syndrome in them as well.