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Review
. 2019 Dec;12(6):514-516.
doi: 10.1007/s12265-018-9859-0. Epub 2019 Jan 2.

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini  1 , Pier Filippo Vianello  1 , Chiara Gemelli  2 , Marina Grandis  2 , Marco Canepa  3
Affiliations
Review

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini et al. J Cardiovasc Transl Res. 2019 Dec.

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.

Keywords: Amyloid cardiomyopathy; Amyloidosis; Transthyretin; Transthyretin familial amyloid polyneuropathy; Tyr78Phe.

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References

    1. J Mol Biol. 2000 Dec 1;304(3):461-70 - PubMed
    1. Am J Med. 2001 Aug 15;111(3):243-4 - PubMed
    1. Amyloid. 2003 Mar;10(1):29-33 - PubMed
    1. Eur Heart J. 2013 Feb;34(7):520-8 - PubMed
    1. Case Rep Neurol. 2011 Feb 23;3(1):62-8 - PubMed

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