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Gain-of-function vs. loss-of-function effects of DES variants on cardiodesminopathy phenotypes

29 August 2025 (07:00 - 18:00)
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Congress Presentation Part of: Improved understanding of the genetic background of cardiomyopathy Clinical ESC Professional Premium Access ESC Congress 2025 European Society of Cardiology

About the speaker

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Mr Mario Urtis

Foundation IRCCS Policlinic San Matteo - University of Pavia, Pavia (Italy)

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The impact of desmosomal mutations on clinical features in arrhythmogenic cardiomyopathy: towards tailored arrhythmic risk stratification
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Leveraging the shared and opposing genetic mechanisms in the heritable cardiomyopathies for gene discovery
Ms D. Kramarenko (Amsterdam, NL)
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Predictors of the identification of clinically relevant genetic variants in dilated cardiomyopathy in a sample of the brazilian population
Mr L. Cedro (Sao Paulo, BR)
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Identification of ultra-rare variants in dilated cardiomyopathy: insights into LMNA pathogenesis and prognostic significance
Doctor T. Kitai (Suita, JP)
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The clinical spectrum of TTN variants in families affected by dilated cardiomyopathy: evidence for a pre-clinical phenotype
Doctor F. Goldie (Glasgow, GB)
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Improved understanding of the genetic background of cardiomyopathy
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The Event

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ESC Congress 2025

29 August - 1 September 2025

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novartis Explore sponsored resources

ESC 365 is supported by

novartis Explore sponsored resources