Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini; Pier Filippo Vianello; Chiara Gemelli; Marina Grandis; Marco Canepa

doi:10.1007/s12265-018-9859-0

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini, Pier Filippo Vianello, Chiara Gemelli, Marina Grandis, Marco Canepa

A.O.U. San Martino - IST, Istituto Nazionale Ricerca sul Cancro (GENOVA)

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	514-516
Number of pages	3
Journal	Journal of Cardiovascular Translational Research
Volume	12
Issue number	6
DOIs	https://doi.org/10.1007/s12265-018-9859-0
Publication status	Published - Dec 2019

Keywords

Amyloid cardiomyopathy
Amyloidosis
Transthyretin
Transthyretin familial amyloid polyneuropathy
Tyr78Phe

ASJC Scopus subject areas

Molecular Medicine
Genetics
Pharmaceutical Science
Cardiology and Cardiovascular Medicine
Genetics(clinical)

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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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author = "Giacomo Tini and Vianello, {Pier Filippo} and Chiara Gemelli and Marina Grandis and Marco Canepa",

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AU - Vianello, Pier Filippo

AU - Gemelli, Chiara

AU - Grandis, Marina

AU - Canepa, Marco

PY - 2019/12

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AB - 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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KW - Transthyretin familial amyloid polyneuropathy

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