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  • Title: Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.
    Author: Tini G, Vianello PF, Gemelli C, Grandis M, Canepa M.
    Journal: J Cardiovasc Transl Res; 2019 Dec; 12(6):514-516. PubMed ID: 30604309.
    Abstract:
    Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
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