Abstract
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.
Highlights
Heart failure (HF) is a highly prevalent, multi-factorial progressive disease associated with substantial morbidity and mortality, representing one of the main global health problems [1]
When considering the Systolic Model on the common and specific genetic and environmental factors contributing to left ventricle (LV) myocardial deformation, interestingly, we found strong genetic background of strain parameters
The corresponding deformation directions measured by netic influence (40%) speckle-tracking on the accurate and sensitive earlyindependent diastolic strain rateenvironmental is mainly echocardiography have a strong, genetic and determination, indicated by the fact that we found no common genetic and environmental roots for strain parameters
Summary
Heart failure (HF) is a highly prevalent, multi-factorial progressive disease associated with substantial morbidity and mortality, representing one of the main global health problems [1]. Can affect left ventricular (LV) systolic and diastolic function [1]. Transthoracic echocardiography is the standard diagnostic method to assess LV systolic and diastolic function by measuring conventional LV ejection fraction (LVEF), mitral inflow and mitral annular tissue doppler velocities. Diastolic dysfunction is the main mechanism of HFpEF, representing up to. Our knowledge of HFpEF is still limited regarding pathophysiology, clinical treatment, and predisposing and precipitating factors [1]. Advanced imaging techniques such as strain analysis using speckle-tracking echocardiography have higher sensitivity to detect subclinical stages of different cardiac alterations and overall represent a more accurate LV functional assessment compared with conventional EF measurement [2,3]. The commonly used early diastolic strain rate (LsrE) represents LV enlargement rate during early diastole [4]
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