title: Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome.
abstract: BACKGROUND
  Patients with Marfan syndrome (MFS) have a highly variable occurrence of aortic complications. Aortic tortuosity is often present in MFS and may help to identify patients at risk for aortic complications.
  
  
  METHODS
  3D-visualization of the total aorta by MR imaging was performed in 211 adult MFS patients (28% with prior aortic root replacement) and 20 controls. A method to assess aortic tortuosity (aortic tortuosity index: ATI) was developed and reproducibility was tested. The relation between ATI and age, and body size and aortic dimensions at baseline was investigated. Relations between ATI at baseline and the occurrence of a clinical endpoint (aortic dissection, and/or aortic surgery) and aortic dilatation rate during 3 years of follow-up were investigated.
  
  
  RESULTS
  ATI intra- and interobserver agreements were excellent (ICC: 0.968 and 0.955, respectively). Mean ATI was higher in 28 age-matched MFS patients than in the controls (1.92 ± 0.2 vs. 1.82 ± 0.1, p=0.048). In the total MFS cohort, mean ATI was 1.87 ± 0.20, and correlated with age (r=0.281, p<0.001), aortic root diameter (r=0.223, p=0.006), and aortic volume expansion rate (r=0.177, p=0.026). After 49.3 ± 8.8 months follow-up, 33 patients met the combined clinical endpoint (7 dissections) with a significantly higher ATI at baseline than patients without endpoint (1.98 ± 0.2 vs. 1.86 ± 0.2, p=0.002). Patients with an ATI>1.95 had a 12.8 times higher probability of meeting the combined endpoint (log rank-test, p<0.001) and a 12.1 times higher probability of developing an aortic dissection (log rank-test, p=0.003) compared to patients with an ATI<1.95.
  
  
  CONCLUSIONS
  Increased ATI is associated with a more severe aortic phenotype in MFS patients.
authors.affiliation: Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands; Interuniversity Cardiology Institute of the Netherlands, The Netherlands.
authors.forename: Romy
authors.initials: R
authors.lastname: Franken
authors.affiliation: Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Abdelali
authors.initials: A
authors.lastname: El Morabit
authors.affiliation: Department of Medical Biochemistry, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Vivian
authors.initials: V
authors.lastname: de Waard
authors.affiliation: Department of Cardiology, Radboud University Nijmegen Medical Centre, The Netherlands.
authors.forename: Janneke
authors.initials: J
authors.lastname: Timmermans
authors.affiliation: Department of Cardiology, Leiden University Medical Centre, The Netherlands.
authors.forename: Arthur J
authors.initials: AJ
authors.lastname: Scholte
authors.affiliation: Department of Cardiology, University Medical Centre, Groningen, The Netherlands.
authors.forename: Maarten P
authors.initials: MP
authors.lastname: van den Berg
authors.affiliation: Department of Biomedical Engineering and Physics, Academic Medical Centre, Amsterdam, The Netherlands; Department of Radiology, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Henk
authors.initials: H
authors.lastname: Marquering
authors.affiliation: Department of Radiology, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Nils R N
authors.initials: NR
authors.lastname: Planken
authors.affiliation: Department of Clinical Epidemiology and Biostatistics, Academic Medical Centre, Amsterdam, The Netherlands.
authors.forename: Aeilko H
authors.initials: AH
authors.lastname: Zwinderman
authors.affiliation: Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands; Interuniversity Cardiology Institute of the Netherlands, The Netherlands.
authors.forename: Barbara J M
authors.initials: BJ
authors.lastname: Mulder
authors.affiliation: Department of Cardiology, Academic Medical Centre, Amsterdam, The Netherlands; Interuniversity Cardiology Institute of the Netherlands, The Netherlands; Department of Radiology, Academic Medical Centre, Amsterdam, The Netherlands. Electronic address: m.groenink@amc.uva.nl.
authors.forename: Maarten
authors.initials: M
authors.lastname: Groenink
mesh_terms: D000328:Adult; D000784:Aortic Dissection / Q000473:pathology; D047228:Angiotensin II Type 1 Receptor Blockers / Q000008:administration & dosage / Q000009:adverse effects; D001011:Aorta / Q000187:drug effects / Q000473:pathology; D001018:Aortic Diseases / Q000188:drug therapy / Q000473:pathology*; D004108:Dilatation, Pathologic / Q000188:drug therapy / Q000473:pathology; D005260:Female; D000071837:Fibrillins; D005500:Follow-Up Studies; D006801:Humans; D019808:Losartan / Q000008:administration & dosage / Q000009:adverse effects; D008279:Magnetic Resonance Imaging; D008297:Male; D008382:Marfan Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology*; D008840:Microfilament Proteins / Q000378:metabolism; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D015203:Reproducibility of Results
chemical_list: D047228:Angiotensin II Type 1 Receptor Blockers; D000071837:Fibrillins; D008840:Microfilament Proteins; D019808:Losartan
keywords: Aorta; Aortic dissection; Magnetic imaging; Marfan syndrome; Tortuosity