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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Cardiac involvement in four novel nesprin-1 genetic variants
Anno:
2023
Background: Nesprins are proteins encoded by synaptic nuclear envelope (SYNE)-1 and -2 genes, that concur, together with lamin A/C and emerin, to nuclear envelope function. Almost 140 disease-related variants were identified, mostly resulting in central nervous system and skeletal muscle disorders; only a few were associated with cardiomyopathy, mostly…
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ASSOCIATION BETWEEN AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE AND A SEVERE DILATED CARDIOMYOPATHY: A CASE REPORT
Anno:
2023
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in PKD1 and PKD2 genes, encoding polycystin 1 and 2. We report the case of a 51-year-old woman with arterial hypertension and stage V chronic kidney disease from polycystic kidney disease, without a significant family health history. She was…
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