Genetics in cardiovascular diseases

  • Rudy Celeghin Cardiovascular Pathology Unit, Azienda Ospedaliera, and Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy.
  • Gaetano Thiene Cardiovascular Pathology Unit, Azienda Ospedaliera, and Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy.
  • Barbara Bauce Cardiovascular Pathology Unit, Azienda Ospedaliera, and Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy.
  • Cristina Basso | cristina.basso@unipd.it Cardiovascular Pathology Unit, Azienda Ospedaliera, and Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy.
  • Kalliopi Pilichou Cardiovascular Pathology Unit, Azienda Ospedaliera, and Department of Cardiac, Thoracic and Vascular Sciences and Public Health, University of Padua, Italy.

Abstract

Cardiovascular diseases (CVDs) are a wide group of disorders affecting the heart and blood vessels, including coronary artery, valve, pericardial, conduction system, myocardial and vascular diseases, either congenital or acquired, which can be also heritable. The advent of next generation sequencing (NGS) was accompanied by quick advances in understanding the genetic basis of human diseases, prompting translation of genetics to the clinic. Precision medicine is based on these findings and on the role of genetic testing to improve the diagnosis, to identify individuals with previously unrecognized disease and family members at risk of future disease development which require longitudinal follow-up. However, the probabilistic nature of genetic testing and the subjectivity of genetic variants classification weighted on current evidence, making this powerful clinical tool difficult to be applied in precision diagnostics and therapeutics. Here, we reviewed systematically the genetic basis of CVDs with special emphasis on the current role of NGS in clinical diagnosis and risk assessment, underlying the need of multidisciplinary cardio-genetic referral centers.

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Published
2019-09-06
Section
State of the Art with an Expert
Keywords:
Cardiovascular diseases, next generation sequencing, genetics.
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How to Cite
Celeghin, R., Thiene, G., Bauce, B., Basso, C., & Pilichou, K. (2019). Genetics in cardiovascular diseases. Italian Journal of Medicine, 13(3), 137-151. https://doi.org/10.4081/itjm.2019.1186