Associazione Nazionale Medici Cardiologi Ospedalieri

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CONGRESS ABSTRACT

CONGRESS ABSTRACT

Categorie
RBM20 VARIANTS RELATED CARDIOMYOPATHY: AN ITALIAN CASE SERIES
Anno:
2023
Background: RNA-binding motif protein 20 (RBM20) regulates post-transcriptional splicing, particularly in sarcomeric, but also in other cardiac genes crucial for homeostasis. RBM20 variants are a rare cause of cardiomyopathy (CMP), but genotype-phenotype correlation is still elusive, starting from the type of CMP (dilated, non-compacted, hypertrophic, and even restrictive phenotypes…
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The integrated cardiogenetics clinic for cardiomyopathies – first year of activity resulting from a new organizational model.
Anno:
2023
INTRODUCTION: over the last year our center has empowered a specific clinic for the follow-up of patients affected by cardiomyopathies. In this context, genetic testing was offered to specific patients suspected of having genetically determined cardiomyopathies. We present here how we organized the genetic diagnostic pathway of these patients…
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