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

doi:10.1007/s00330-016-4590-1

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

Eur Radiol. 2017 Jun;27(6):2419-2425. doi: 10.1007/s00330-016-4590-1. Epub 2016 Sep 22.

Authors

Affiliations

¹ MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Városmajor St. 68, H-1122, Budapest, Hungary.
² Department of Hydrodynamic Systems, Budapest University of Technology and Economics, Budapest, Hungary.
³ Department of Radiology and Oncotherapy, Semmelweis University, Budapest, Hungary.
⁴ Global Genomics Group, Atlanta, GA, USA.
⁵ Medical Department, Bajcsy-Zsilinszky Hospital, Budapest, Hungary.
⁶ 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.

PMID: 27659700
DOI: 10.1007/s00330-016-4590-1

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; Genetic determinism; Multidetector computed tomography; Transthoracic echocardiography; Twins.

Publication types

Twin Study

MeSH terms

Aorta / anatomy & histology*
Aorta / diagnostic imaging
Computed Tomography Angiography / methods
Echocardiography / methods
Female
Genetic Determinism*
Genotype
Humans
Imaging, Three-Dimensional / methods
Male
Middle Aged
Multidetector Computed Tomography / methods
Multimodal Imaging / methods
Sinus of Valsalva / anatomy & histology
Sinus of Valsalva / diagnostic imaging
Twins, Dizygotic
Twins, Monozygotic