title: Incidence, morphology, and progression of bicuspid aortic valve in pediatric and young adult subjects with coexisting congenital heart defects.
abstract: BACKGROUND
  Bicuspid aortic valve (BAV) occurs both as an isolated cardiac lesion and in association with congenital heart defects (CHD). Their aim was to identify the incidence and morphology of BAV in patients with coexisting CHD and compare their disease progression to patients with isolated BAV.
  
  
  METHODS
  The Mayo Clinic echocardiography database was retrospectively analyzed to identify pediatric and young adult patients (≤22 years) who were diagnosed with BAV from 1990 to 2015. The morphology of BAV was determined from the echocardiographic studies before any intervention.
  
  
  RESULTS
  Overall, 1010 patients with BAV were identified, 619 (61%) with isolated BAV and 391 (39%) with BAV and coexisting CHD. The incidence of BAV was highest in patients with coarctation of the aorta (36%) and interrupted aortic arch (36%). In comparison to patients with isolated BAV, patients with BAV and left-sided obstructive lesions more frequently had right-left cusp fusion (P = .0001). BAV in patients with right-sided obstructive lesions was rare, but they more frequently had right-noncoronary or left-noncoronary cusp fusion (P = .01). No significant progression of aortic stenosis or regurgitation was observed in patients with BAV and coexisting CHD; however in patients with isolated BAV the severity of aortic regurgitation increased with age. In patients with isolated BAV, the ascending aorta diameter (z-score) increased with age, peaked around 8-9 years of age, and was larger in comparison to patients with BAV and coexisting CHD. The sinus of Valsalva diameter (z-score) in patients with BAV and ventricular septal defect was larger than isolated BAV patients after 18 years (P < .04).
  
  
  CONCLUSIONS
  The morphology of BAV, the pattern and progression of aortic dilatation, and the severity of aortic valve disease vary in pediatric and young adult patients with BAV and coexisting CHD. However, there was no significant BAV disease progression when associated with these CHD.
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Talha
authors.initials: T
authors.lastname: Niaz
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Joseph T
authors.initials: JT
authors.lastname: Poterucha
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.|Department of Medicine/Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jonathan N
authors.initials: JN
authors.lastname: Johnson
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Craviari
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Thomas
authors.initials: T
authors.lastname: Nienaber
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Jared
authors.initials: J
authors.lastname: Palfreeman
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.|Department of Medicine/Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Frank
authors.initials: F
authors.lastname: Cetta
authors.affiliation: Department of Pediatrics/Division of Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota, USA.|Department of Medicine/Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota, USA.
authors.forename: Donald J
authors.initials: DJ
authors.lastname: Hagler
mesh_terms: D000293:Adolescent; D001013:Aorta, Thoracic / Q000000981:diagnostic imaging; D001021:Aortic Valve / Q000002:abnormalities*; D000082882:Bicuspid Aortic Valve Disease; D002648:Child; D002675:Child, Preschool; D018450:Disease Progression; D004452:Echocardiography / Q000379:methods*; D029968:Escherichia coli Proteins; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications* / Q000175:diagnosis; D006349:Heart Valve Diseases / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology*; D006352:Heart Ventricles / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013762:Tetrahydrofolate Dehydrogenase; D014481:United States / Q000453:epidemiology; D055815:Young Adult
chemical_list: D029968:Escherichia coli Proteins; C479919:FolM protein, E coli; D013762:Tetrahydrofolate Dehydrogenase
keywords: aortic valve stenosis; ascending aorta dilation; bicuspid aortic valve; congenital heart defects; sinus of Valsalva