The paradoxical TGF-β vasculopathies

Two new studies show that haploinsufficiency for TGFB2 causes a familial syndrome of thoracic aortic aneurysms and dissections with other clinical features that overlap the Marfan, Loeys-Dietz spectrum of syndromes. Their finding of loss-of-function mutations in yet another transforming growth factor (TGF)-beta pathway gene reinforces the seeming paradox of observed increases in the downstream TGF-beta signaling pathway.