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

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
Journal	Journal of Cardiovascular Translational Research
DOIs	https://doi.org/10.1007/s12265-018-9859-0
Publication status	Accepted/In press - Jan 1 2019

Fingerprint

Prealbumin

Cardiomyopathies

Amyloid

Mutation

Neurologic Manifestations

Phenotype

Amyloidosis, Hereditary, Transthyretin-Related

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)

Cite this

Tini, G., Vianello, P. F., Gemelli, C., Grandis, M., & Canepa, M. (Accepted/In press). Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. Journal of Cardiovascular Translational Research. https://doi.org/10.1007/s12265-018-9859-0

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. / Tini, Giacomo; Vianello, Pier Filippo; Gemelli, Chiara; Grandis, Marina ; Canepa, Marco.

In: Journal of Cardiovascular Translational Research, 01.01.2019.

Research output: Contribution to journal › Article

Tini, G, Vianello, PF, Gemelli, C, Grandis, M & Canepa, M 2019, 'Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation', Journal of Cardiovascular Translational Research. https://doi.org/10.1007/s12265-018-9859-0

Tini G, Vianello PF, Gemelli C, Grandis M , Canepa M. Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. Journal of Cardiovascular Translational Research. 2019 Jan 1. https://doi.org/10.1007/s12265-018-9859-0

Tini, Giacomo ; Vianello, Pier Filippo ; Gemelli, Chiara ; Grandis, Marina ; Canepa, Marco. / Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. In: Journal of Cardiovascular Translational Research. 2019.

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10.1007/s12265-018-9859-0