Acute dilatation of the ascending aorta and aortic valve regurgitation in Loeys-Dietz syndrome.

Abstract

Loeys-Dietz syndrome (LDS) is a recently recognized connective tissue disorder caused by mutations of the transforming growth factor (TGF)-β receptors. It is an autosomal dominant syndrome characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We treated an 18-year-old woman with a 100-mm-diameter aortic root aneurysm and severe aortic valve regurgitation. She underwent urgent aortic root replacement and bioprosthetic valve implantation. LDS was diagnosed by postoperative genetic screening results. Histopathologic examination of the aortic wall showed diffuse degeneration and elastin fragmentation in the media.