Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.

doi:10.1002/ejhf.1285

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Article

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.

European journal of heart failure - 1 Oct 2018

Gagliardi Christian, Perfetto Federico, Lorenzini Massimiliano, Ferlini Alessandra, Salvi Fabrizio, Milandri Agnese, Quarta Cristina Candida, Taborchi Giulia, Bartolini Simone, Frusconi Sabrina, Martone Raffaele, Cinelli Michele Mario, Foffi Serena, Reggiani Maria Letizia Bacchi, Fabbri Gioele, Cataldo Paolo, Cappelli Francesco, Rapezzi Claudio

Abstract excerpt

AIMS: Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin-related hereditary amyloidosis (ATTRm), can present with several phenotypes, depending mainly on the specific mutation. We aimed to characterize the phenotype of patients with ATTRm due to Ile68Leu mutation, comparing them to patients with wild-type transthyretin amyloidosis (ATTRwt)....

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PMID: 30070416
DOI: 10.1002/ejhf.1285

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