Timothy syndrome is a severe variant of long QT syndrome, but an accurate in vivo model to study the disease and identify treatments has been lacking. A knock-in swine model of Timothy syndrome now shows that CaMKII-mediated reduction in peak INa slows the cardiac impulse propagation and contributes to the severe arrhythmia in the disorder.
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Acknowledgements
C.R.B. received support from EJP-RD (LQTS-NEXT, ZonMW project 40-46300-98-19009), the Leducq Foundation (project 17CVD02) and the Dutch Heart Foundation (CVON 2018-30 PREDICT2).
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Boukens, B.J., Verkerk, A.O. & Bezzina, C.R. Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome. Nat Cardiovasc Res 3, 18–20 (2024). https://doi.org/10.1038/s44161-023-00408-6
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DOI: https://doi.org/10.1038/s44161-023-00408-6
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