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<p>Cardiomyopathies are structural or functional diseases of the heart muscle, often with a&#xa0;genetic origin. The European Society of Cardiology (ESC) guidelines 2023 recommend a&#xa0;systematic, multimodal diagnostic approach in which genetic testing plays a&#xa0;key role, particularly for understanding the etiology, risk stratification and treatment planning. A&#xa0;detailed family history is essential. When pathogenic variants are identified, targeted testing of relatives enables early diagnosis, detection and monitoring. Genetic diagnostics thus increasingly influence clinical decision-making, especially in preventing heart failure and sudden cardiac death. In addition to confirmation of the diagnosis, genetics opens up new therapeutic perspectives in conditions such as amyloidosis, Fabry disease and hypertrophic cardiomyopathy (HCM). In the presented case of a&#xa0;young woman with suspected myocarditis, the risk stratification and etiological findings are elaborated.</p>

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Genetik der Kardiomyopathien – Was junge Kardiolog:innen wissen müssen

  • 期刊论文

  • 发表日期：

    2026年3月27日

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  • Alicia Brözel,
  • Benjamin Meder

摘要

Cardiomyopathies are structural or functional diseases of the heart muscle, often with a genetic origin. The European Society of Cardiology (ESC) guidelines 2023 recommend a systematic, multimodal diagnostic approach in which genetic testing plays a key role, particularly for understanding the etiology, risk stratification and treatment planning. A detailed family history is essential. When pathogenic variants are identified, targeted testing of relatives enables early diagnosis, detection and monitoring. Genetic diagnostics thus increasingly influence clinical decision-making, especially in preventing heart failure and sudden cardiac death. In addition to confirmation of the diagnosis, genetics opens up new therapeutic perspectives in conditions such as amyloidosis, Fabry disease and hypertrophic cardiomyopathy (HCM). In the presented case of a young woman with suspected myocarditis, the risk stratification and etiological findings are elaborated.