title: Surgical experience in a patient with Loeys-Dietz syndrome type I.
abstract: Loeys-Dietz syndrome is a recently described genetic disorder with aortic and vascular involvement. Here, we present the medical history and surgical management of a patient with Loeys-Dietz syndrome type I caused by a mutation in M253I in the TGFBR1 gene who received complete aortic replacement and various peripheral vascular surgeries over the course of 25 years.
authors.affiliation: Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany.
authors.forename: Erik
authors.initials: E
authors.lastname: Beckmann
authors.affiliation: Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany.
authors.forename: Penelope
authors.initials: P
authors.lastname: Stiefel
authors.affiliation: Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany.
authors.forename: Malakh
authors.initials: M
authors.lastname: Shrestha
authors.affiliation: Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany.
authors.forename: Axel
authors.initials: A
authors.lastname: Haverich
authors.affiliation: Department of Cardiothoracic, Transplantation and Vascular Surgery, Hannover Medical School, Hannover, Germany. Electronic address: martens.andreas@mh-hannover.de.
authors.forename: Andreas
authors.initials: A
authors.lastname: Martens
mesh_terms: D000328:Adult; D000783:Aneurysm / Q000000981:diagnostic imaging / Q000601:surgery; D000784:Aortic Dissection / Q000000981:diagnostic imaging / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging / Q000601:surgery*; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging / Q000601:surgery*; D019917:Blood Vessel Prosthesis Implantation / Q000379:methods; D018572:Disease-Free Survival; D019918:Heart Valve Prosthesis Implantation / Q000379:methods; D006801:Humans; D021621:Imaging, Three-Dimensional; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis / Q000235:genetics / Q000601:surgery*; D008297:Male; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D000077293:Receptor, Transforming Growth Factor-beta Type I; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D018570:Risk Assessment; D013348:Subclavian Artery / Q000000981:diagnostic imaging / Q000601:surgery*; D013997:Time Factors; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014463:Ultrasonography
chemical_list: D018125:Receptors, Transforming Growth Factor beta; D017346:Protein Serine-Threonine Kinases; D000077293:Receptor, Transforming Growth Factor-beta Type I; C000625841:TGFBR1 protein, human