Arnett Donna K, de las Fuentes Lisa, Broeckel Ulrich
Division of Epidemiology, School of Public Health, University of Minnesota, 1300 South Second Street, Suite 300, Minneapolis, MN 55454, USA.
Curr Hypertens Rep. 2004 Feb;6(1):36-41. doi: 10.1007/s11906-004-0009-5.
Left ventricular (LV) hypertrophy is very common, particularly among hypertensives. The presence of LV hypertrophy profoundly affects morbidity and mortality from cardiovascular diseases and stroke, and is now recognized as the most important predictor of chronic heart failure. Hypertension, obesity, and diabetes are important determinants of LV hypertrophy, but they fail to identify many individuals with the condition, suggesting that other factors, likely genetic in origin, play a role. Although much research has been undertaken to understand the causes of hypertrophy and the medical treatments that can lead to its regression, much remains unknown about its genetic basis. LV hypertrophy is considered a complex genetic disease, likely representing an interaction of several genes with the environment. The heritability of LV mass, measured as a quantitative trait, falls between 0.3 and 0.7 in different populations, suggesting it has a familial component. Genes encoding proteins involved in LV structure, as well as genes encoding cell signal transduction, hormones, growth factors, calcium homeostasis, substrate metabolism, and blood pressure are likely candidates for the development of common forms of LV hypertrophy. An overview of the pathophysiology of LV hypertrophy and dysfunction is provided, in addition to evidence of the genetic basis for LV hypertrophy in humans and animal models.
左心室肥厚非常常见,尤其在高血压患者中。左心室肥厚的存在会严重影响心血管疾病和中风的发病率及死亡率,目前被认为是慢性心力衰竭最重要的预测指标。高血压、肥胖和糖尿病是左心室肥厚的重要决定因素,但它们无法识别出许多患有该病症的个体,这表明其他因素(可能源于遗传)也起到了作用。尽管已经开展了大量研究来了解肥厚的原因以及能够使其逆转的医学治疗方法,但关于其遗传基础仍有许多未知之处。左心室肥厚被认为是一种复杂的遗传疾病,可能代表了多个基因与环境的相互作用。以数量性状衡量的左心室质量的遗传度在不同人群中介于0.3至0.7之间,这表明它具有家族性成分。编码参与左心室结构的蛋白质的基因,以及编码细胞信号转导、激素、生长因子、钙稳态、底物代谢和血压的基因,都可能是常见形式左心室肥厚发生发展的候选基因。除了人类和动物模型中左心室肥厚遗传基础的证据外,还提供了左心室肥厚和功能障碍病理生理学的概述。