title: 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.
authors.affiliation: Department of Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan. Electronic address: t.nakajima@sapmed.ac.jp.
authors.forename: Tomohiro
authors.initials: T
authors.lastname: Nakajima
authors.affiliation: Department of Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Tachibana
authors.affiliation: Department of Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Miyaki
authors.affiliation: Department of Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Nobuyuki
authors.initials: N
authors.lastname: Takagi
authors.affiliation: Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center Research Institute, Osaka, Japan.
authors.forename: Takayuki
authors.initials: T
authors.lastname: Morisaki
authors.affiliation: Department of Cardiovascular Surgery, Sapporo Medical University School of Medicine, Sapporo, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Higami
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D001011:Aorta / Q000473:pathology*; D001022:Aortic Valve Insufficiency / Q000601:surgery*; D004108:Dilatation, Pathologic; D005260:Female; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000150:complications*