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Concealed cardiomyopathy as an emerging cause of sudden cardiac arrest and sudden cardiac death

Abstract

The inherited cardiomyopathies exhibit a broad spectrum of disease, with some patients remaining asymptomatic throughout life, while, for others, the first symptom of disease is sudden cardiac death at a young age. The risk of malignant ventricular arrhythmia in these conditions has traditionally been linked to the degree of structural myocardial abnormalities and functional impairment. However, recent advances in genetic testing and knowledge of the genetic basis of the diseases have led to the identification of concealed cardiomyopathy, in which sudden cardiac arrest or sudden cardiac death occurs in the absence of observable clinical features of cardiomyopathy, with a diagnosis being made only after the identification of a causative genetic variant. Increased awareness of concealed cardiomyopathy, a better understanding of mechanisms of arrhythmia and identification of risk modulators will be vital to improve care for families with concealed cardiomyopathy.

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Fig. 1: Representation of a cardiomyocyte highlighting the components implicated in cardiomyopathy.
Fig. 2: Hypothesized drivers of concealed cardiomyopathy.

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Acknowledgements

C.S. is the recipient of a National Health and Medical Research Council Investigator grant (2016822) and a New South Wales Health Cardiovascular Disease Clinician Scientist grant. R.T. holds the Canada Research Chair in Translational Cardiovascular Genetics.

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Isbister, J.C., Tadros, R., Raju, H. et al. Concealed cardiomyopathy as an emerging cause of sudden cardiac arrest and sudden cardiac death. Nat Cardiovasc Res 3, 1274–1283 (2024). https://doi.org/10.1038/s44161-024-00558-1

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