title: Total Aortic Replacement for a 9-Year-Old Boy With Loeys-Dietz Syndrome.
abstract: Loeys-Dietz syndrome (LDS) is a recently identified rare connective tissue disorder caused by mutations of the transforming growth factor-β receptors and first described in 2005. It is an autosomal dominant syndrome with 2 different phenotypic expressions-LDS I and II. LDS is characterized by the triad of arterial tortuosity and aneurysm, hypertelorism, and a bifid uvula or cleft palate. We present a case of a 9-year-old boy diagnosed with LDS who underwent urgent thoracoabdominal aortic aneurysm repair followed by total arch replacement and aortic valve-sparing root replacement (AVSRR).
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Inoue
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan. Electronic address: minatoya@ncvc.go.jp.
authors.forename: Kenji
authors.initials: K
authors.lastname: Minatoya
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Oda
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Itonaga
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Seike
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tanaka
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Hiroaki
authors.initials: H
authors.lastname: Sasaki
authors.affiliation: Department of Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Osaka, Japan.
authors.forename: Junjiro
authors.initials: J
authors.lastname: Kobayashi
mesh_terms: D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging* / Q000209:etiology / Q000601:surgery*; D001027:Aortography / Q000379:methods; D001807:Blood Vessel Prosthesis; D019917:Blood Vessel Prosthesis Implantation / Q000379:methods*; D002315:Cardiopulmonary Bypass / Q000379:methods; D002648:Child; D005500:Follow-Up Studies; D006801:Humans; D021621:Imaging, Three-Dimensional; D055947:Loeys-Dietz Syndrome / Q000150:complications / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000209:etiology / Q000601:surgery*; D008297:Male; D035583:Rare Diseases; D018570:Risk Assessment; D013908:Thoracotomy / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods; D016896:Treatment Outcome