Mekhael Mario, Bidaoui Ghassan, Falloon Austin, Pandey Amitabh C
Section of Cardiology, Deming Dept of Medicine, Tulane University School of Medicine, New Orleans, LA, United States.
Section of Cardiology, Deming Dept of Medicine, Tulane University School of Medicine, New Orleans, LA, United States; Southeast Louisiana Veterans Health Care System, New Orleans, LA, United States.
Trends Cardiovasc Med. 2025 Apr;35(3):154-163. doi: 10.1016/j.tcm.2024.10.003. Epub 2024 Oct 21.
Personalized healthcare is becoming increasingly popular given the vast heterogeneity in disease manifestation between individuals. Many commonly encountered diseases within cardiology are multifactorial in nature and disease progression and response is often variable due to environmental and genetic factors influencing disease states. This makes accurate early identification and primary prevention difficult in certain populations, especially young patients with limited Atherosclerotic Cardiovascular Disease (ASCVD) risk factors. Newer strategies, such as coronary artery calcium (CAC) scans and polygenic risk scores (PRS), are being implemented to aid in the detection of subclinical disease and heritable risk, respectively. Data surrounding CAC scans have shown promising results in their ability to detect subclinical atherosclerosis and predict the risk of future coronary events, especially at the extremes; however, predictive variability exists among different patient populations, limiting the test's specificity. Furthermore, relying only on CAC scores and ASCVD risk scores may fail to identify a large group of patients needing primary prevention who lack subclinical disease and traditional risk factors, but harbor genetic variabilities strongly associated with certain cardiovascular diseases. PRS can overcome these limitations. These scores can be measured in individuals as early as birth to identify genetic variants placing them at elevated risk for developing cardiovascular disease, irrespective of their current cardiovascular health status. By applying PRS alongside CAC scores, previously overlooked patient populations can be identified and begin primary prevention strategies early to achieve optimal outcomes. In this review, we expand on the current knowledge surrounding CAC scores and PRS and highlight the future possibilities of these technologies for preventive cardiology.
鉴于个体间疾病表现存在巨大差异，个性化医疗正变得越来越流行。心脏病学中许多常见疾病本质上是多因素的，由于环境和遗传因素影响疾病状态，疾病进展和反应往往各不相同。这使得在某些人群中，尤其是动脉粥样硬化性心血管疾病（ASCVD）危险因素有限的年轻患者中，准确的早期识别和一级预防变得困难。冠状动脉钙化（CAC）扫描和多基因风险评分（PRS）等新策略正在被应用，分别用于辅助检测亚临床疾病和遗传风险。围绕CAC扫描的数据显示，其在检测亚临床动脉粥样硬化和预测未来冠状动脉事件风险方面取得了有前景的结果，尤其是在极端情况下；然而，不同患者群体之间存在预测变异性，限制了该检测的特异性。此外，仅依靠CAC评分和ASCVD风险评分可能无法识别一大批需要一级预防的患者，这些患者缺乏亚临床疾病和传统危险因素，但携带与某些心血管疾病密切相关的遗传变异。PRS可以克服这些局限性。这些评分最早可在个体出生时进行测量，以识别使其患心血管疾病风险升高的遗传变异，而不论其当前的心血管健康状况如何。通过将PRS与CAC评分一起应用，可以识别以前被忽视的患者群体，并尽早开始一级预防策略，以实现最佳结果。在本综述中，我们扩展了围绕CAC评分和PRS的现有知识，并强调了这些技术在预防心脏病学方面的未来可能性。
