title: Aortic root dimensions are predominantly determined by genetic factors: a classical twin study.
abstract: OBJECTIVE
  Previous studies using transthoracic echocardiography (TTE) observed moderate heritability of aortic root dimensions. Computed tomography angiography (CTA) might provide more accurate heritability estimates. Our primary aim was to assess the heritability of the aortic root with CTA. Our secondary aim was to derive TTE-based heritability and compare this with the CTA-based results.
  
  
  METHODS
  In the BUDAPEST-GLOBAL study 198 twin subjects (118 monozygotic, 80 dizygotic; age 56.1 ± 9.4 years; 126 female) underwent CTA and TTE. We assessed the diameter of the left ventricular outflow tract (LVOT), annulus, sinus of Valsalva, sinotubular junction and ascending aorta. Heritability was assessed using ACDE model (A additive genetic, C common environmental, D dominant genetic, E unique environmental factors).
  
  
  RESULTS
  Based on CTA, additive genetic effects were dominant (LVOT: A = 0.67, E = 0.33; annulus: A = 0.76, E = 0.24; sinus of Valsalva: A = 0.83, E = 0.17; sinotubular junction: A = 0.82, E = 0.18; ascending aorta: A = 0.75, E = 0.25). TTE-derived measurements showed moderate to no genetic influence (LVOT: A = 0.38, E = 0.62; annulus: C = 0.47, E = 0.53; sinus of Valsalva: C = 0.63, E = 0.37; sinotubular junction: C = 0.45, E = 0.55; ascending aorta: A = 0.67, E = 0.33).
  
  
  CONCLUSIONS
  CTA-based assessment suggests that aortic root dimensions are predominantly determined by genetic factors. TTE-based measurements showed moderate to no genetic influence. The choice of measurement method has substantial impact on heritability estimates.
  
  
  CONCLUSIONS
  • Aortic root dimensions are determined by genetic and environmental effects. • Transthoracic echocardiography (TTE) demonstrated moderate to no genetic effects on aortic root dimensions. • Computed tomography angiography might provide more accurate heritability estimates compared to TTE. • Three-dimensional imaging techniques are needed to reliably quantify aortic root dimensions.
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Csilla
authors.initials: C
authors.lastname: Celeng
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Márton
authors.initials: M
authors.lastname: Kolossváry
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Attila
authors.initials: A
authors.lastname: Kovács
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Andrea Ágnes
authors.initials: AÁ
authors.lastname: Molnár
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Bálint
authors.initials: B
authors.lastname: Szilveszter
authors.affiliation: Department of Hydrodynamic Systems, Budapest University of Technology and Economics, Budapest, Hungary.
authors.forename: Tamás
authors.initials: T
authors.lastname: Horváth
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Mihály
authors.initials: M
authors.lastname: Károlyi
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Ádám L
authors.initials: ÁL
authors.lastname: Jermendy
authors.affiliation: Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.
authors.forename: Ádám D
authors.initials: ÁD
authors.lastname: Tárnoki
authors.affiliation: Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.
authors.forename: Dávid L
authors.initials: DL
authors.lastname: Tárnoki
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Júlia
authors.initials: J
authors.lastname: Karády
authors.affiliation: Global Genomics Group, Atlanta, GA, USA.
authors.forename: Szilard
authors.initials: S
authors.lastname: Voros
authors.affiliation: Medical Department, Bajcsy-Zsilinszky Hospital, Budapest, Hungary.
authors.forename: György
authors.initials: G
authors.lastname: Jermendy
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
authors.forename: Béla
authors.initials: B
authors.lastname: Merkely
authors.affiliation: MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary. p.maurovich.horvat@mail.harvard.edu.
authors.forename: Pál
authors.initials: P
authors.lastname: Maurovich-Horvat
mesh_terms: D001011:Aorta / Q000033:anatomy & histology* / Q000000981:diagnostic imaging; D000072226:Computed Tomography Angiography / Q000379:methods; D004452:Echocardiography / Q000379:methods; D005260:Female; D033141:Genetic Determinism; D005838:Genotype; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D008297:Male; D008875:Middle Aged; D061330:Multidetector Computed Tomography / Q000379:methods; D064847:Multimodal Imaging / Q000379:methods; D012850:Sinus of Valsalva / Q000033:anatomy & histology / Q000000981:diagnostic imaging; D014429:Twins, Dizygotic; D014430:Twins, Monozygotic
keywords: Ascending aorta; Genetic determinism; Multidetector computed tomography; Transthoracic echocardiography; Twins