title: Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome.
abstract: BACKGROUND
  Aneurysms-osteoarthritis syndrome (AOS), caused by SMAD3 mutations, is a recently described autosomal dominant condition characterized by aneurysms throughout the arterial tree in combination with osteoarthritis. The objective of the present study was to evaluate progression rate of aortic dilation and surgical outcome in AOS patients.
  
  
  METHODS
  All AOS patients are regularly monitored according to our clinical AOS protocol. Patients with at least two follow-up visits or who underwent aortic root surgery during follow-up were included in this cohort study. Clinical and surgical data were obtained from chart abstraction.
  
  
  RESULTS
  We included 22 patients (aged 38 ± 15 years; 41% male) with the molecular diagnosis of AOS. Follow-up duration was 3.3 years (interquartile range, 1.6 to 5.1). In the 17 patients who were managed conservatively, aortic root diameter increased from 37.5 ± 5.1 mm at baseline to 40.3 ± 6.2 mm at follow-up (p = 0.008). Progression rate of aortic dilation was highest at the level of the sinus of Valsalva (2.5 ± 5.8 mm per year) and significantly correlated with the initial diameter (r = 0.603, p = 0.017). Ten patients successfully underwent valve-sparing aortic root replacement, 5 after previous watchful waiting. Mean preoperative aortic diameter was 46.6 ± 4.0 mm. The operations were not complicated by fragility of tissue. After a postoperative period of 2.8 years (interquartile range, 0.7 to 5.4), no mortality or reoperations had occurred, and all patients remained asymptomatic.
  
  
  CONCLUSIONS
  Aneurysm growth in AOS patients can be fast and unpredictable, warranting extensive and frequent cardiovascular monitoring. Valve-sparing aortic root replacement is a safe and effective procedure for the management of aortic root aneurysms in AOS patients.
authors.affiliation: Department of Cardiology, Erasmus Medical Center, Rotterdam, The Netherlands.
authors.forename: Denise
authors.initials: D
authors.lastname: van der Linde
authors.forename: Jos A
authors.initials: JA
authors.lastname: Bekkers
authors.forename: Francesco U S
authors.initials: FU
authors.lastname: Mattace-Raso
authors.forename: Ingrid M B H
authors.initials: IM
authors.lastname: van de Laar
authors.forename: Adriaan
authors.initials: A
authors.lastname: Moelker
authors.forename: Annemien E
authors.initials: AE
authors.lastname: van den Bosch
authors.forename: Bas M
authors.initials: BM
authors.lastname: van Dalen
authors.forename: Janneke
authors.initials: J
authors.lastname: Timmermans
authors.forename: Aida M
authors.initials: AM
authors.lastname: Bertoli-Avella
authors.forename: Marja W
authors.initials: MW
authors.lastname: Wessels
authors.forename: Ad J J C
authors.initials: AJ
authors.lastname: Bogers
authors.forename: Jolien W
authors.initials: JW
authors.lastname: Roos-Hesselink
mesh_terms: D000328:Adult; D000783:Aneurysm / Q000601:surgery; D017545:Aortic Aneurysm, Thoracic / Q000601:surgery*; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D010003:Osteoarthritis; D013577:Syndrome; D013997:Time Factors