[Progress in cardiovascular prevention: from risk charts to polygenic risk score and precision prevention]

G Ital Cardiol (Rome). 2021 Aug;22(8):599-605. doi: 10.1714/3641.36214.
[Article in Italian]

Abstract

In the last few decades, great epidemiological studies identified the main risk factors and their causative role in cardiovascular diseases (CVD). In this field, the pivotal study was the Framingham Heart Study for the evaluation of classical risk factors and for the production of initial instruments of risk calculation. The Seven Countries Study of Cardiovascular Diseases was the first to compare the influence of different cultural environments on the risks of developing atherosclerosis. In 1980, the Italian Journal of Cardiology published an extensive evaluation of risk factors in nine Italian communities. Since the early '90s, the first risk charts for global and individual risk evaluation were available (Framingham, SCORE, PROCAM, CUORE). Mortality reduction in the period of 1980-2000 can be attributed to risk factor reduction in primary prevention (55%) and to pharmacological treatment in the acute phase of the disease or in secondary prevention (40%). Two important longitudinal studies have been conducted in Italy in the periods of 1998-2002 and 2008-2012 thanks to the cooperation of the National Association of Hospital Cardiologists (ANMCO) and the National Health Institute (ISS), which became the reference point for the influence of lifestyle and risk factors on CVD. During the last 15 years, genetic studies allowed the construction of polygenic risk scores (PRS), that are strongly predictive of developing CVD in the future, thanks to big genomic datasets of individuals followed for more than 10 years (e.g. UK Biobank). PRS can be used as an adjunctive tool to the common risk charts for a better classification of individual risk profile. In addition to PRS, inflammation biomarkers and imaging tools like ultrasound and coronary calcium score and their integration with machine learning can help in the best definition of cardiovascular risk. Precision prevention by the study of "metabotypes" and community prevention provide possible future development of cardiovascular prevention.

MeSH terms

  • Cardiovascular Diseases* / epidemiology
  • Cardiovascular Diseases* / genetics
  • Cardiovascular Diseases* / prevention & control
  • Humans
  • Primary Prevention
  • Risk Assessment
  • Risk Factors
  • Secondary Prevention