Genetic Influence on Left Ventricular Structure and Function: A Korean Twin and Family Study

Abstract

Genetic factors have been suggested to be one of the determinants of the variation of left ventricular (LV) structure and function. However, the heritability range of LV structure varies across studies and the influence of genetics on LV function is not well established, especially in Asian populations. Study subjects were 1,642 healthy Korean adults from 426 families, consisting of 298 pairs of monozygotic twins, 62 pairs of dizygotic twins, one set of triplets, 567 siblings, and 354 parents. LV structure and function were measured by M-mode and 2D echocardiography, and conventional and tissue Doppler imaging (TDI). Pairwise intra-class correlations for various familial relationships and heritability were estimated for LV structure and function. The heritability of LV mass, LV ejection fraction (LVEF), left atrial volume index, the ratio between early and late diastolic velocity of mitral inflow (E/A ratio), and the ratio between early diastolic velocity of mitral inflow and early diastolic mitral annular velocities (E/Ea ratio) was 0.44, 0.27, 0.44, 0.25, and 0.33, respectively. Bivariate genetic analysis showed that LV structural and functional traits had significant genetic correlations with cardiovascular risk factors. Additive genetic correlation ( G) of LV mass with body mass index, systolic blood pressure, and high density lipoprotein cholesterol were 0.49, 0.42, and -0.15 respectively. LVEF ( G = 0.33) and left atrial volume index ( G = 0.24) also had a significant genetic correlation with systolic blood pressure. These findings support the theory that genetic factors have significant influence on these traits and necessitate further work to identify the specific genes involved.

Genetically determined pattern of left ventricular function in normal and hypertensive hearts

“…In our study, the heritability of ejection fraction was moderate (61%), in line with previous results from Caucasian populations . However, a surprisingly low level of heritability (27%) was found in a Korean population . Importantly, our results are consistent with the findings of earlier studies, suggesting that environmental factors have a stronger influence on diastolic function than genetic factors …”

“…While the most widely used measure of cardiac performance is ejection fraction, previous studies have produced conflicting results regarding its heritability . Advanced imaging techniques, such as speckle‐tracking echocardiography, provide novel insights into left ventricular (LV) biomechanics and have a higher sensitivity to detect subclinical stages of different cardiac diseases .…”

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

“…Moreover, the weak genetic background of LV diastolic parameters points at a higher susceptibility to environmental effects (i.e., comorbidities) of diastolic function. Similar to our results, the Belgium twin study and Korean twin and family study found low heritability of LV diastolic function [ 19 , 20 ]. This, along with an independent determination from systolic parameters, may also represent a potential background for such pathological states where the development of systolic and diastolic dysfunction is detached.…”

Association Between Excessive Alcohol Consumption and Echocardiographic Parameters According to the Presence of Flushing Reaction in Korean Men: A Community‐Based Study

“…All echocardiographers involved in this study were registered diagnostic cardiac sonographers accredited by the American Registry for Diagnostic Medical Sonography. Details are described in a previously published paper (Noh et al., ).…”