title: Aortopathy is prevalent in relatives of bicuspid aortic valve patients.
abstract: OBJECTIVE
  This study aimed to determine the prevalence of dilation and abnormal elastic properties of aortic root in first-degree relatives (FDRs) of bicuspid aortic valve (BAV) patients.
  
  
  BACKGROUND
  Evidence indicates that BAV is a genetic disorder. Although FDRs of affected individuals have an increased prevalence of BAV, their risk of aortic root abnormalities is unknown.
  
  
  METHODS
  We studied dimensions as well as the elastic properties of the ascending aorta in 48 FDRs with morphologically normal tricuspid aortic valves, 54 BAV patients, and 45 control subjects using 2-dimensional echocardiography.
  
  
  RESULTS
  The prevalence of aortic root dilation was 32% in FDRs and 53% in BAV patients, whereas all control subjects showed normal aortic dimensions (p < 0.001). The FDRs and BAVs had significantly lower aortic distensibility (1.7 +/- 1.4 x 10(-3) mm Hg and 1.4 +/- 2.0 x 10(-3) mm Hg vs. 2.5 +/- 1.6 x 10(-3) mm Hg, p < 0.001) and greater aortic stiffness index (26.7 +/- 25.8 and 55.9 +/- 76.8 vs. 18.7 +/- 40.1, p = 0.001) compared with control subjects. This difference remained significant in subjects without aortic root dilation or hypertension (p = 0.002 and p = 0.004, respectively).
  
  
  CONCLUSIONS
  The aortic root is functionally abnormal and dilation is common (32%) in first-degree relatives of patients with BAV. Screening of FDRs by transthoracic 2-dimensional echocardiography should be considered for detection of aortic valve malformation and dilated ascending aorta.
authors.affiliation: Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
authors.forename: Simon
authors.initials: S
authors.lastname: Biner
authors.forename: Asim M
authors.initials: AM
authors.lastname: Rafique
authors.forename: Indraneil
authors.initials: I
authors.lastname: Ray
authors.forename: Olivera
authors.initials: O
authors.lastname: Cuk
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Siegel
authors.forename: Kirsten
authors.initials: K
authors.lastname: Tolstrup
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology*; D001024:Aortic Valve Stenosis / Q000453:epidemiology / Q000473:pathology; D016022:Case-Control Studies; D004108:Dilatation, Pathologic / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000473:pathology; D004548:Elasticity; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000473:pathology*; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D015995:Prevalence; D011446:Prospective Studies; D012307:Risk Factors; D014463:Ultrasonography; D014481:United States / Q000453:epidemiology