Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.

doi:10.1093/eurjpc/zwae011

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Article

Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.

European journal of preventive cardiology - 11 May 2024

Caponetti Angelo Giuseppe, Sguazzotti Maurizio, Accietto Antonella, Saturi Giulia, Ponziani Alberto, Giovannetti Alessandro, Massa Paolo, Ruotolo Irene, Sena Giuseppe, Zaccaro Andrea, Parisi Vanda, Bonfiglioli Rachele, Guaraldi Pietro, Gagliardi Christian, Cortelli Pietro, Galie Nazzareno, Biagini Elena, Longhi Simone

Abstract excerpt

AIMS: Hereditary transthyretin amyloidosis (ATTRv) is one of the leading aetiologies of systemic amyloidosis with more than 135 mutations described and a broad spectrum of clinical manifestations. We aimed to provide a systematic description of a population of individuals carrying pathogenic mutations of transthyretin (TTR) gene and to investigate the major clinical events during follow-up. METHODS AND RESULTS:...

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PMID: 38204330
DOI: 10.1093/eurjpc/zwae011

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