title: Successful Single-Stage Operation for Loeys-Dietz Syndrome With Critical Coarctation of the Descending Aorta in a Young Adult.
abstract: Patients with critical coarctation of the aorta complicated with Loeys-Dietz syndrome are extremely rare. We report a successful single-stage operation involving critical coarctation of the descending aorta with a bicuspid aortic valve, aneurysmal aortic root, and ascending aorta in a 19-year-old man. The patient was genetically evaluated and a novel heterozygous TGFBR2 mutation was detected.
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Shijie
authors.initials: S
authors.lastname: Wei
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Xiaojie
authors.initials: X
authors.lastname: Huang
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Shijun
authors.initials: S
authors.lastname: Hu
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China.
authors.forename: Yifeng
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Cardiovascular Surgery, The Second Xiangya Hospital, Central South University, Changsha, China. Electronic address: liufengxiangya@gmail.com.
authors.forename: Feng
authors.initials: F
authors.lastname: Liu
mesh_terms: D001013:Aorta, Thoracic / Q000601:surgery*; D001014:Aortic Aneurysm / Q000601:surgery*; D001017:Aortic Coarctation / Q000150:complications / Q000601:surgery*; D001021:Aortic Valve / Q000002:abnormalities* / Q000601:surgery; D001022:Aortic Valve Insufficiency / Q000601:surgery; D000082882:Bicuspid Aortic Valve Disease; D006349:Heart Valve Diseases / Q000601:surgery*; D019918:Heart Valve Prosthesis Implantation / Q000379:methods; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D035583:Rare Diseases; D000077294:Receptor, Transforming Growth Factor-beta Type II; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D055815:Young Adult
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077294:Receptor, Transforming Growth Factor-beta Type II