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Education in Heart
Modern clinical genetics in cardiology
  1. Philippe Charron,
  2. Julie Proukhnitzky
  1. National Referral Center for Inherited Cardiac Diseases, Cardiology and Genetics Departments, Hôpital de la Pitié-Salpêtrière, Paris, France
  1. Correspondence to Professor Philippe Charron; philippe.charron{at}aphp.fr

Abstract

Advances in molecular genetics during the past decades led to seminal discoveries in the genetic basis of cardiovascular diseases, resulting in a new understanding of their pathogenesis, determinants of natural history and more recently paved the way for innovative therapies. A significant gap, however, exists between the rapidly increasing knowledge, especially of cardiovascular Mendelian disorders, and the medical applications in daily practice. This paper will focus on the practical issues the cardiologist may be faced with when suspecting a Mendelian disorder. The objective is to review the general issues related to genetic counselling and genetic testing, and to provide key messages for their integration into the medical management of the patients and relatives, according to a precision medicine approach.

  • Genetics
  • Cardiovascular Diseases
  • Education, Medical
  • Translational Medical Research
  • Risk Factors

https://doi.org/10.1136/heartjnl-2024-324171

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    Footnotes

    • Contributors Study conception and design: PC and JP. Literature review: JP and PC. Draft manuscript preparation with input from both authors: PC. Final manuscript preparation and submission: JP. Both authors reviewed and approved the final version of the manuscript. PC acted as guarantor.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Commissioned; externally peer reviewed.

    • Author note References which include a * are considered to be key references.

    • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.