title: Altered aortic shape in bicuspid aortic valve relatives influences blood flow patterns.
abstract: OBJECTIVE
  Bicuspid aortic valve (BAV) is known to exhibit familial inheritance and is associated with aortopathy and altered aortic haemodynamics. However, it remains unclear whether BAV-related aortopathy can be inherited independently of valve morphology.
  
  
  RESULTS
  Four-dimensional flow magnetic resonance imaging for the in vivo assessment of thoracic aortic 3D blood flow was performed in 24 BAV relatives with trileaflet aortic valves (age = 40 ± 14 years) and 15 healthy controls (age = 37 ± 10 years). Data analysis included aortic dimensions, shape (round/gothic/cubic), and 3D blood flow characteristics (semi-quantitative vortex/helix grading and peak velocities). Cubic and gothic aortic shapes were markedly more prevalent in BAV relatives compared with controls (38 vs. 7%). Ascending aorta (AAo) vortex flow in BAV relatives was significantly increased compared with controls (grading = 1.5 ± 1.0 vs. 0.6 ± 0.9, P = 0.015). Aortic haemodynamics were influenced by aortic shape: peak velocities were reduced for gothic aortas vs. round aortas (P = 0.003); vortex flow was increased for cubic aortas in the AAo (P < 0.001) and aortic arch (P = 0.004); vortex and helix flows were elevated for gothic aortas in the AAo and descending aorta (P = 0.003, P = 0.029). Logistic regression demonstrated significant associations of shape with severity of vortex flow in AAo (P < 0.001) and aortic arch (P = 0.016) in BAV relatives.
  
  
  CONCLUSIONS
  BAV relatives expressed altered aortic shape and increased vortex flow despite the absence of valvular disease or aortic dilatation. These data suggest a heritable component of BAV-related aortopathy affecting aortic shape and aberrant blood flow, independent of valve morphology.
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA susanne.schnell@northwestern.edu.
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnell
authors.affiliation: Division of Cardiac Surgery, Northwestern University, 201 E. Huron Street, Galter 11-140, Chicago, IL 60611, USA.
authors.forename: Danielle A
authors.initials: DA
authors.lastname: Smith
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: Alex J
authors.initials: AJ
authors.lastname: Barker
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: Pegah
authors.initials: P
authors.lastname: Entezari
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: Amir R
authors.initials: AR
authors.lastname: Honarmand
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: Maria L
authors.initials: ML
authors.lastname: Carr
authors.affiliation: Division of Cardiac Surgery, Northwestern University, 201 E. Huron Street, Galter 11-140, Chicago, IL 60611, USA.
authors.forename: S Chris
authors.initials: SC
authors.lastname: Malaisrie
authors.affiliation: Division of Cardiac Surgery, Northwestern University, 201 E. Huron Street, Galter 11-140, Chicago, IL 60611, USA.
authors.forename: Patrick M
authors.initials: PM
authors.lastname: McCarthy
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Collins
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.
authors.forename: James C
authors.initials: JC
authors.lastname: Carr
authors.affiliation: Department of Radiology, Northwestern University, 737 N. Michigan Avenue, Suite 1600, Chicago, IL 60611, USA.|Department Biomedical Engineering, McCormick School of Engineering, Northwestern University, 2145 Sheridan Road, Evanston, IL 60208, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Markl
mesh_terms: D000328:Adult; D001021:Aortic Valve / Q000002:abnormalities* / Q000000981:diagnostic imaging; D000082882:Bicuspid Aortic Valve Disease; D001783:Blood Flow Velocity / Q000235:genetics* / Q000502:physiology; D016022:Case-Control Studies; D005240:Feasibility Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006349:Heart Valve Diseases / Q000000981:diagnostic imaging* / Q000235:genetics*; D006439:Hemodynamics / Q000235:genetics / Q000502:physiology; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010865:Pilot Projects; D012016:Reference Values; D018570:Risk Assessment; D055815:Young Adult
keywords: 4D flow MRI; bicuspid aortic valve; haemodynamics; relatives