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The next step toward personalized recommendations for genetic cardiomyopathies

European Journal of Human Genetics (2023)Cite this article

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The genetic basis of dilated cardiomyopathy (DCM) is very heterogeneous, with over 65 genes described in association with its development. The most prevalent genetic etiology are truncating variants in TTN (TTNtv), that comprise around 50% of all genetic cases. Truncating variants in FLNC (FLNCtv) are the latest discovery to the genetic landscape of DCM, and the gene is now included in every cardiomyopathy gene panel. Despite being the ‘new kid on the block’, FLNCtv are already included in the latest guidelines of the European Society of Cardiology (ESC) as a significant risk factor for life-threatening arrhythmias, thereby guiding decision-making whether a patient with DCM requires an implantable cardioverter-defibrillator (ICD) [1]. This reflects the continuing advancements in cardiogenetics, and a concomitant shift toward more implications of genetic testing on clinical care.

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Fig. 1: Truncating variants in TTN and FLNC are the most prevalent causes of dilated or arrhythmogenic cardiomyopathy.

References

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Funding

Funding

JAJV is supported by a research grant (Dekker – Clinical Scientist) from the Dutch Heart Foundation.

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Authors and Affiliations

  1. Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht Univeristy, Maastricht, the Netherlands

    Sophie L. V. M. Stroeks & Job A. J. Verdonschot

  2. European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart), Maastricht, the Netherlands

    Sophie L. V. M. Stroeks & Job A. J. Verdonschot

  3. Department of Cardiovascular Sciences, Katholieke Universiteit Leuven (KU Leuven), Leuven, Belgium

    Sophie L. V. M. Stroeks

  4. Department of Clinical Genetics, Maastricht University Medical Center (MUMC), Maastricht, the Netherlands

    Sophie L. V. M. Stroeks & Job A. J. Verdonschot

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  1. Sophie L. V. M. Stroeks
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  2. Job A. J. Verdonschot
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SLVMS and JAJV both wrote the comment equally. SLVMS designed and created the figure.

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Correspondence to Job A. J. Verdonschot.

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The authors declare no competing interests.

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Stroeks, S.L.V.M., Verdonschot, J.A.J. The next step toward personalized recommendations for genetic cardiomyopathies. Eur J Hum Genet (2023). https://doi.org/10.1038/s41431-023-01394-w

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  • DOI: https://doi.org/10.1038/s41431-023-01394-w

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