Article
Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact.
European heart journal - 24 Aug 2026
Cappelli Francesco, Fumagalli Carlo, Luigetti Marco, Mussinelli Roberta, Longhi Simone, Guaraldi Pietro, Aimo Alberto, Argirò Alessia, Barilaro Alessandro, Biagini Elena, Biagioni Giulia, Ceccanti Marco, Cipriani Alberto, Chimenti Cristina, De Michieli Laura, Di Bella Gianluca, Emdin Michele, Graziani Francesca, Imazio Massimo, Limongelli Giuseppe, Lofiego Carla, Musca Francesco, Ossola Paolo, Nuvolone Mario, Perlini Stefano, Pieroni Maurizio, Porcari Aldostefano, Musumeci Beatrice, Palmiero Giuseppe, Perfetto Federico, Ruotolo Irene, Russo Massimo, Tini Giacomo, Vergaro Giuseppe, Vagnarelli Fabio, Verrillo Federica, Sciarrone Maria Ausilia, Salvalaggio Alessandro, Zampieri Mattia, Mazzoni Carlotta, Sinagra Gianfranco, Palladini Giovanni, Merlo Marco, Obici Laura
Abstract excerpt
BACKGROUND AND AIMS: Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance. Cascade genetic screening may enable earlier diagnosis and intervention, but its prognostic impact remains unclear. METHODS: This study retrospectively analysed 967 individuals from 431 families between 2004 and 2024 across 15 Italian referral centres. Participants were categorized as ATTRv...
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