MTA-SE Cardiovascular Imaging Research Group, Heart and Vascular Center, Semmelweis University, Budapest, Hungary.
Central European University, Budapest, Hungary.
J Clin Hypertens (Greenwich). 2018 May;20(5):949-958. doi: 10.1111/jch.13271. Epub 2018 May 9.
We sought to assess the inheritance of left ventricular (LV) function using speckle-tracking echocardiography and the impact of hypertension on modifying the genetically determined pattern of contraction in a population of twins. We recruited 92 Caucasian twin pairs, including 74 hypertensive (HTN) siblings. Beyond standard echocardiographic protocol, a speckle-tracking analysis was performed, including global longitudinal strain (GLS). Systolic function, as assessed by ejection fraction, showed moderate heritability (61%); however, GLS showed higher and dominant heritability (75%). Heterogeneity models revealed that there were no differences between the HTN and non-HTN subjects regarding the heritability of GLS. However, the heritability estimates of diastolic function parameters, including early diastolic strain rate, were low. LV systolic biomechanics is highly heritable. GLS shows dominant heritability, despite the presence of early-stage hypertensive heart disease. Early diastolic parameters are rather determined by environmental factors. These findings suggest the presence of a genetic framework that conserves systolic function despite the expression of diastolic dysfunction and may underlie the phenotypic progression towards heart failure with preserved ejection fraction.
我们试图使用斑点追踪超声心动图评估左心室(LV)功能的遗传性,以及高血压对双胞胎人群中收缩遗传模式的影响。我们招募了 92 对高加索双胞胎,其中包括 74 对高血压(HTN)兄弟姐妹。除了标准的超声心动图方案外,还进行了斑点追踪分析,包括整体纵向应变(GLS)。射血分数评估的收缩功能表现出中等的遗传性(61%);然而,GLS 表现出更高和显性的遗传性(75%)。异质性模型显示,HTN 和非-HTN 受试者之间的 GLS 遗传性没有差异。然而,包括早期舒张应变率在内的舒张功能参数的遗传度估计值较低。LV 收缩生物力学具有高度遗传性。尽管存在早期高血压性心脏病,GLS 仍表现出显性遗传性。早期舒张参数主要受环境因素决定。这些发现表明存在一个遗传框架,尽管存在舒张功能障碍,但仍能维持收缩功能,并可能是射血分数保留的心力衰竭表型进展的基础。