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<p>Genetic testing is becoming increasingly more important in the field of cardiomyopathies and channelopathies. Physicians can nowadays utilize genetic diagnostics for effectively making and confirming a diagnosis, risk stratification, individual prognosis estimation as well as for treatment management. This is supported by a&#xa0;greater understanding of genotype-phenotype associations and by recommendations stemming from multicentric studies and guidelines. The detection of a&#xa0;genetic variant makes a differentiation between diseases at an early or even preclinical stage possible, enabling a&#xa0;more accurate risk stratification with respect to prevention of sudden cardiac death, especially in case of mutations in high-risk genes. If a&#xa0;pathogenic variant is identified in index patients, genetic testing of relatives helps to decide whether and to what degree further follow-up is required. In the near future this will enable more specific treatment options or even the prevention of disease manifestation. Regarding future perspectives, the identification of disease-associated genetic variants in conjunction with a better understanding of the underlying molecular pathomechanisms will enable the development of new treatment strategies and as a&#xa0;result promote further improvement in personalized medicine in the field of cardiomyopathies and channelopathies.</p>

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Genetik der Kardiomyopathien und Arrhythmien – Risikobeurteilung und Therapieperspektive

  • 期刊论文

  • 发表日期：

    2025年2月20日

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  • Michael Wisdom,
  • Benjamin Meder

摘要

Genetic testing is becoming increasingly more important in the field of cardiomyopathies and channelopathies. Physicians can nowadays utilize genetic diagnostics for effectively making and confirming a diagnosis, risk stratification, individual prognosis estimation as well as for treatment management. This is supported by a greater understanding of genotype-phenotype associations and by recommendations stemming from multicentric studies and guidelines. The detection of a genetic variant makes a differentiation between diseases at an early or even preclinical stage possible, enabling a more accurate risk stratification with respect to prevention of sudden cardiac death, especially in case of mutations in high-risk genes. If a pathogenic variant is identified in index patients, genetic testing of relatives helps to decide whether and to what degree further follow-up is required. In the near future this will enable more specific treatment options or even the prevention of disease manifestation. Regarding future perspectives, the identification of disease-associated genetic variants in conjunction with a better understanding of the underlying molecular pathomechanisms will enable the development of new treatment strategies and as a result promote further improvement in personalized medicine in the field of cardiomyopathies and channelopathies.