Genetics of dilated cardiomyopathy: practical implications for heart failure management

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Andrew N Rosenbaum1, Katherine E Agre2, Naveen L Pereira3,4,5

  • 1Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.

Nature Reviews. Cardiology
|October 13, 2019
PubMed

Insights

Understanding heart failure genetics is crucial for reducing disease burden. Genetic testing and counseling aid in identifying pathogenic variants and implementing precision medicine for better patient outcomes.

Area of Science:

  • Cardiology
  • Genetics
  • Precision Medicine

Background:

  • Heart failure presents a significant global health challenge, necessitating improved diagnostic and prognostic strategies.
  • Genetic factors are increasingly recognized as a major cause of cardiomyopathies, driving advancements in heart failure genetics research.
  • Identifying genetic variants is key to understanding disease mechanisms and tailoring treatments.

Purpose of the Study:

  • To highlight the critical role of genetic investigation in diagnosing and managing heart failure.
  • To discuss the progress and challenges in the field of heart failure genetics.
  • To emphasize the need for increased genetic expertise in clinical practice for precision medicine.

Main Methods:

  • Systematic review of current research in cardiomyopathy genetics.
  • Analysis of the impact of genetic testing on risk stratification and diagnosis.
  • Evaluation of the role of genetic counseling in clinical settings.

Main Results:

  • Familial evaluation and genetic testing can identify pathogenic genetic variants in cardiomyopathies.
  • Genetic testing reveals disease heterogeneity, with challenges in interpreting variants of uncertain significance.
  • Increased availability of genetic counselors is essential for integrating genetics into heart failure care.

Conclusions:

  • Advances in heart failure genetics offer opportunities for personalized treatment strategies.
  • Further research and clinical experience are needed to fully leverage genetic information for precision medicine in heart failure.
  • Integrating genetic insights into clinical decision-making can improve patient management and outcomes.

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