title: Is there alteration in aortic stiffness in Leber hereditary optic neuropathy?
abstract: OBJECTIVE
  Leber hereditary optic neuropathy (LHON) is recognized as the most common cause of isolated blindness in young men. The current study was designed to test whether LHON as a mitochondrial disease is associated with vascular functional alterations characterized by aortic elastic properties during echocardiography.
  
  
  METHODS
  A total of 19 patients with typical features of LHON aged 42+/-13 years (10 males) were included. Their results were compared to 19 age- and gender-matched healthy controls. Aortic stiffness index was calculated from the echocardiographically derived aortic diameters and the clinical blood pressure data.
  
  
  RESULTS
  In this patient population, the point mutation was present in 3460G>A position in five cases, in 11778G>A position in five cases, and in 14484T>C position in nine patients. Diastolic aortic diameter (26.0+/-2.5 mm vs 28.4+/-4.1 mm, p<0.05) and aortic stiffness index (5.1+/-2.6 vs 12.0+/-7.9, p<0.05) were significantly increased in LHON patients compared to controls.
  
  
  CONCLUSIONS
  Aortic stiffness can be increased in LHON disease, but further studies are warranted to confirm these findings in a larger LHON patient population with a more reliable method focusing on the pathophysiologic background.
authors.affiliation: Department of Cardiology, Thoraxcentre, Erasmus Medical Center, Rotterdam, The Netherlands. nemes@in2nd.szote.u-szeged.hu
authors.forename: A
authors.initials: A
authors.lastname: Nemes
authors.forename: I F M
authors.initials: IF
authors.lastname: De Coo
authors.forename: L
authors.initials: L
authors.lastname: Spruijt
authors.forename: H J M
authors.initials: HJ
authors.lastname: Smeets
authors.forename: P F
authors.initials: PF
authors.lastname: Chinnery
authors.forename: O I I
authors.initials: OI
authors.lastname: Soliman
authors.forename: M L
authors.initials: ML
authors.lastname: Geleijnse
authors.forename: F J
authors.initials: FJ
authors.lastname: Ten Cate
mesh_terms: D000328:Adult; D001011:Aorta / Q000503:physiopathology*; D001783:Blood Flow Velocity; D001794:Blood Pressure; D004272:DNA, Mitochondrial / Q000235:genetics; D004452:Echocardiography; D004548:Elasticity; D005260:Female; D006801:Humans; D008297:Male; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000503:physiopathology*; D017354:Point Mutation; D011446:Prospective Studies; D018608:Ultrasonography, Doppler
chemical_list: D004272:DNA, Mitochondrial