Journal Article

Left Ventricular Systolic Function Has Strong Independent Genetic Background from Diastolic Function: A Classical Twin Study

Kovács, Attila, Molnár, Andrea Ágnes, Szilveszter, Bálint, Jermendy, György, Merkely, Béla, Voros, Szilard, Lakatos, Bálint, Tokodi, Márton, Kolossváry, Márton, Tárnoki, Ádám Domonkos, Tárnoki, Dávid László, Maurovich-Horvat, Pál

2021

Overview

Background and Objectives: No data are available on whether the heritability of left ventricle (LV) systolic and diastolic parameters are independent of each other. Therefore, our aim was to assess the magnitude of common and independent genetic and environmental factors defining LV systolic and diastolic function. Materials and Methods: We analyzed 184 asymptomatic twins (65% female, mean age: 56 ± 9 years). Transthoracic echocardiography was performed to measure LV systolic (global longitudinal and circumferential strain; basal and apical rotation) and diastolic (early diastolic velocity of mitral inflow and lateral mitral annulus tissue; deceleration time and early diastolic strain rate) parameters using conventional and speckle-tracking echocardiography. Genetic structural equation models were evaluated to quantify the proportion of common and specific genetic (Ac, As) and environmental factors (Ec, Es) contributing to the phenotypes. Results: LV systolic parameters had no common genetic or environmental heritability (Ac range: 0–0%; Ec range: 0–0%; As range: 57–77%; Es range: 24–43%). Diastolic LV parameters were mainly determined by common genetic and environmental effects (Ac range: 9–40%; Ec range: 11–49%; As range: 0–29%; Es range: 0–51%). Systolic parameters had no common genetic or environmental factors (Ac = 0%; Ec = 0%) with diastolic metrics. Conclusions: Systolic LV parameters have a strong genetic predisposition to any impact. They share no common genetic or environmental factors with each other or with diastolic parameters, indicating that they may deteriorate specifically to given effects. However, diastolic functional parameters are mainly affected by common environmental influences, suggesting that pathological conditions may deteriorate them equally. Estimation of the genetic and environmental influence and interdependence on systolic and diastolic LV function may help the understanding of the pathomechanism of different heart failure classification types.

• Publisher: MDPI AG,MDPI
• Subject: Cardiovascular disease / co-heritability / Demographics / Ejection fraction / environmental / genetic / Genotype & phenotype / Heart failure / Investigations / left ventricle / Mortality / Population / Siblings / Software / speckle tracking / twin / Twin studies / Twins