title: Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome.
abstract: BACKGROUND
  Prevention of aortic dissection and sudden death in patients with Marfan syndrome (MFS) requires accurate diagnosis. MFS is diagnosed by the Ghent criteria, which are primarily based on clinical features of Caucasian MFS populations. We determined whether the Ghent criteria apply to Asian MFS populations.
  
  
  RESULTS
  In this multicenter study, we included 255 adult MFS patients according to the Ghent criteria of 2010. Patients were excluded if they were neither Caucasian nor Asian. The Asian MFS population (n=49) had a smaller body surface area (BSA: 1.8 m² vs. 2.0 m², P<0.001), a more severely affected aortic root (absolute aortic diameter: 42.9 mm vs. 43.3mm, P=0.802; corrected for BSA: 24.9 mm vs. 21.7 mm, P<0.001; Z-score: 4.5 vs. 3.6, P=0.013), and more often a positive systemic score (75.5% vs. 60.0%, P=0.045), but less frequently ectopia lentis (24.5% vs. 48.1%, P=0.004) compared with the Caucasian population (n=206).
  
  
  CONCLUSIONS
  The Ghent criteria do not necessarily apply to Asian MFS populations, resulting in a more severely affected cardiovascular system. This may be related to under diagnosis of MFS by multiple factors, including the use of Z-score, and genetic and racial differences. The Ghent criteria should be adapted for Asian populations in order to accurately diagnose MFS.
authors.affiliation: Department of Cardiology, Academic Medical Center.
authors.forename: Romy
authors.initials: R
authors.lastname: Franken
authors.forename: Alexander W
authors.initials: AW
authors.lastname: den Hartog
authors.forename: Liz
authors.initials: L
authors.lastname: van de Riet
authors.forename: Janneke
authors.initials: J
authors.lastname: Timmermans
authors.forename: Arthur J
authors.initials: AJ
authors.lastname: Scholte
authors.forename: Maarten P
authors.initials: MP
authors.lastname: van den Berg
authors.forename: Vivian
authors.initials: V
authors.lastname: de Waard
authors.forename: Aeilko H
authors.initials: AH
authors.lastname: Zwinderman
authors.forename: Maarten
authors.initials: M
authors.lastname: Groenink
authors.forename: James W
authors.initials: JW
authors.lastname: Yip
authors.forename: Barbara J M
authors.initials: BJ
authors.lastname: Mulder
mesh_terms: D000328:Adult; D000368:Aged; D001011:Aorta / Q000473:pathology* / Q000503:physiopathology; D044466:Asian People; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000473:pathology* / Q000503:physiopathology; D008875:Middle Aged; D009426:Netherlands; D012846:Singapore; D044465:White People