TGFB3 and Rienhoff syndrome: Nowadays, TGFB3 is believed to underlie Loeys-Dietz syndrome type 5, a connective tissue disease phenotype with features of Marfan syndrome, including aortic abnormalities.37 The GCEP concluded that while TGFB3 merited a limited evidence classification for ARVC, a variant detected in TGFB3 should be treated with great caution and is unlikely the cause of a patient’s ARVC.