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Fluid-based assays and precision medicine of cardiovascular diseases: the ‘hope’ for Pandora’s box?
  1. Giuditta Benincasa1,
  2. Gelsomina Mansueto2,
  3. Claudio Napoli1,3
  1. 1Clinical Department of Internal Medicine and Specialistics, Department of Advanced Clinical and Surgical Sciences, University of Campania “Luigi Vanvitelli”, Naples, Italy
  2. 2Pathology Section, Department of Advanced Biomedical Sciences, University of Naples "Federico II", Naples, Italy
  3. 3IRCCS-SDN, Naples, Italy
  1. Correspondence to Dr Giuditta Benincasa, Naples 80132, Italy; dr.benincasa.giuditta{at}gmail.com

Abstract

Progresses in liquid-based assays may provide novel useful non-invasive indicators of cardiovascular (CV) diseases. By analysing circulating cells or their products in blood, saliva and urine samples, we can investigate molecular changes present at specific time points in each patient allowing sequential monitoring of disease evolution. For example, an increased number of circulating endothelial cells may be a diagnostic biomarker for diabetic nephropathy and heart failure with preserved ejection fraction. The assessment of circulating cell-free DNA (cfDNA) levels may be useful to predict severity of acute myocardial infarction, as well as diagnose heart graft rejection. Remarkably, circulating epigenetic biomarkers, including DNA methylation, histone modifications and non-coding RNAs are key pathogenic determinants of CV diseases representing putative useful biomarkers and drug targets. For example, the unmethylated FAM101A gene may specifically trace cfDNA derived from cardiomyocyte death providing a powerful diagnostic biomarker of apoptosis during ischaemia. Moreover, changes in plasma levels of circulating miR-92 may predict acute coronary syndrome onset in patients with diabetes. Now, network medicine provides a framework to analyse a huge amount of big data by describing a CV disease as a result of a chain of molecular perturbations rather than a single defect (reductionism). We outline advantages and challenges of liquid biopsy with respect to traditional tissue biopsy and summarise the main completed and ongoing clinical trials in CV diseases. Furthermore, we discuss the importance of combining fluid-based assays, big data and network medicine to improve precision medicine and personalised therapy in this field.

  • liquid biopsy
  • cardiovascular diseases
  • personalized therapy
  • network medicine
  • omics platforms
  • biomarkers
  • imaging
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Footnotes

  • Handling editor Runjan Chetty.

  • Contributors CN: genesis of idea. GB and GM: review of literature, design of tables and figures, initial draft of the manuscript. CN: critical and final review of the paper.

  • Funding This work was supported by 'PRIN2017F8ZB89' from Italian Ministry of Research (PI CN). GB is a PhD student of Translational Medicine awarded ESC Congress 2019 Travel Grant and she is supported by Educational Grant from the University of Campania, Naples, Italy.

  • Disclaimer The funders had no role in study design, data collection and analysis, decision to publish or preparation of the manuscript.

  • Competing interests None declared.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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