title: Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions.
abstract: BACKGROUND
  Genetic disorders are an important cause of thoracic aortic aneurysms (TAAs) in young patients. Despite advances in the treatment of genetically triggered TAAs, the optimal syndrome-specific treatment approach remains undefined. We used data from the National Institutes of Health-funded, multicenter National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) to characterize the contemporary surgical treatment of patients with genetically triggered TAAs.
  
  
  METHODS
  GenTAC's aim is to collect longitudinal clinical data and banked biospecimens from 2800 patients with genetically triggered TAAs. We analyzed data from the 606 patients (mean age, 37.5 years) enrolled in GenTAC to date whose clinical data were available.
  
  
  RESULTS
  The patients' primary diagnoses included Marfan syndrome (35.8%), bicuspid aortic valve with aneurysm (29.2%), and familial TAAs and dissections (10.7%). Of these, 56.4% had undergone at least one operation; the most common indications were aneurysm (85.7%), valve dysfunction (65.8%), and dissection (25.4%). Surgical procedures included replacement of the aortic root (50.6%), ascending aorta (64.8%), aortic arch (27.9%), and descending or thoracoabdominal aorta (12.4%). Syndrome-specific differences in age, indications for operation, and procedure type were identified.
  
  
  CONCLUSIONS
  Patients with genetically transmitted TAAs evaluated in tertiary care centers frequently undergo surgical repair. Aneurysm repairs most commonly involve the aortic root and ascending aorta; distal repairs are less common. Like TAAs themselves, complications of TAAs, including dissection and aortic valve dysfunction, are important indications for intervention. Future studies will focus on syndrome- and gene-specific phenotypes, biomarkers, treatments, and outcomes to improve the treatment of patients with TAAs.
authors.affiliation: Song, Division of Cardiothoracic Surgery, Oregon Health and Science University, Portland, Oregon 97239, USA. songh@ohsu.edu
authors.forename: Howard K
authors.initials: HK
authors.lastname: Song
authors.forename: Joseph E
authors.initials: JE
authors.lastname: Bavaria
authors.forename: Mark W
authors.initials: MW
authors.lastname: Kindem
authors.forename: Kathryn W
authors.initials: KW
authors.lastname: Holmes
authors.forename: Dianna M
authors.initials: DM
authors.lastname: Milewicz
authors.forename: Cheryl L
authors.initials: CL
authors.lastname: Maslen
authors.forename: Reed E
authors.initials: RE
authors.lastname: Pyeritz
authors.forename: Craig T
authors.initials: CT
authors.lastname: Basson
authors.forename: Kim
authors.initials: K
authors.lastname: Eagle
authors.forename: H Eser
authors.initials: HE
authors.lastname: Tolunay
authors.forename: Barbara L
authors.initials: BL
authors.lastname: Kroner
authors.forename: Hal
authors.initials: H
authors.lastname: Dietz
authors.forename: Victor
authors.initials: V
authors.lastname: Menashe
authors.forename: Richard B
authors.initials: RB
authors.lastname: Devereux
authors.forename: Patrice
authors.initials: P
authors.lastname: Desvigne-Nickens
authors.forename: William
authors.initials: W
authors.lastname: Ravekes
authors.forename: Jonathan W
authors.initials: JW
authors.lastname: Weinsaft
authors.forename: Donald
authors.initials: D
authors.lastname: Brambilla
authors.forename: Mario P
authors.initials: MP
authors.lastname: Stylianou
authors.forename: Tabitha
authors.initials: T
authors.lastname: Hendershot
authors.forename: Megan S
authors.initials: MS
authors.lastname: Mitchell
authors.forename: Scott A
authors.initials: SA
authors.lastname: LeMaire
mesh_terms: D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000235:genetics / Q000601:surgery; D001013:Aorta, Thoracic / Q000601:surgery*; D017545:Aortic Aneurysm, Thoracic / Q000235:genetics / Q000601:surgery; D001018:Aortic Diseases / Q000235:genetics* / Q000601:surgery*; D001021:Aortic Valve / Q000002:abnormalities / Q000601:surgery; D019917:Blood Vessel Prosthesis Implantation; D005260:Female; D006785:Hospitals, University; D006801:Humans; D008137:Longitudinal Studies; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000601:surgery; D008875:Middle Aged; D015337:Multicenter Studies as Topic; D011183:Postoperative Complications / Q000601:surgery; D012042:Registries; D012086:Reoperation; D013577:Syndrome; D014481:United States; D055815:Young Adult
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