European Radiology

, Volume 27, Issue 6, pp 2419–2425 | Cite as

Aortic root dimensions are predominantly determined by genetic factors: a classical twin study

  • Csilla Celeng
  • Márton Kolossváry
  • Attila Kovács
  • Andrea Ágnes Molnár
  • Bálint Szilveszter
  • Tamás Horváth
  • Mihály Károlyi
  • Ádám L. Jermendy
  • Ádám D. Tárnoki
  • Dávid L. Tárnoki
  • Júlia Karády
  • Szilard Voros
  • György Jermendy
  • Béla Merkely
  • Pál Maurovich-Horvat
Computed Tomography

Abstract

Objectives

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).

Conclusion

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.

Key Points

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.

Keywords

Ascending aorta Multidetector computed tomography Transthoracic echocardiography Twins Genetic determinism 

Abbreviations and acronyms

ACDE

additive genetic, common environment, dominant genetic, unique environment

BMI

body mass index

CTA

computed tomography angiography

DZ

dizygotic twins

ECG

electrocardiography

ICC

intraclass correlation

LVOT

left ventricular outflow tract

MZ

monozygotic twins

TTE

transthoracic echocardiography

Notes

Acknowledgments

The authors thank Levente Littvay, PhD, from the Central European University (Budapest, Hungary) for his instrumental help in the statistical analysis. The scientific guarantor of this publication is Pál Maurovich-Horvat MD, PhD, MPH. The authors of this manuscript declare relationships with the following companies: Szilard Voros, MD, is a shareholder in Global Genomics Group, LLC, and receives salary from Global Genomics Group, LLC. This study has received funding by a grant from the EFSD (European Foundation for the Study of Diabetes) New Horizons Program to György Jermendy, MD. Global Genomics Group contributed funding for CT imaging and blood-based biomarker measurements. One of the authors has significant statistical expertise. Institutional review board approval was obtained. Written informed consent was obtained from all subjects (patients) in this study. Methodology: prospective, classical twin study, performed at one institution.

Supplementary material

330_2016_4590_MOESM1_ESM.docx (48 kb)
Supplementary Table 1 (DOCX 48 kb)
330_2016_4590_MOESM2_ESM.docx (48 kb)
Supplementary Table 2 (DOCX 48 kb)

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Copyright information

© European Society of Radiology 2016

Authors and Affiliations

  • Csilla Celeng
    • 1
  • Márton Kolossváry
    • 1
  • Attila Kovács
    • 1
  • Andrea Ágnes Molnár
    • 1
  • Bálint Szilveszter
    • 1
  • Tamás Horváth
    • 2
  • Mihály Károlyi
    • 1
  • Ádám L. Jermendy
    • 1
  • Ádám D. Tárnoki
    • 3
  • Dávid L. Tárnoki
    • 3
  • Júlia Karády
    • 1
  • Szilard Voros
    • 4
  • György Jermendy
    • 5
  • Béla Merkely
    • 1
  • Pál Maurovich-Horvat
    • 1
  1. 1.MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular CenterSemmelweis UniversityBudapestHungary
  2. 2.Department of Hydrodynamic SystemsBudapest University of Technology and EconomicsBudapestHungary
  3. 3.Department of Radiology and OncotherapySemmelweis UniversityBudapestHungary
  4. 4.Global Genomics GroupAtlantaUSA
  5. 5.Medical DepartmentBajcsy-Zsilinszky HospitalBudapestHungary

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