Literature DB >> 30604309

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.

Giacomo Tini1, Pier Filippo Vianello1, Chiara Gemelli2, Marina Grandis2, Marco Canepa3.   

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.

Entities:  

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

Mesh：

Substances：

Year:  2019        PMID： 30604309     DOI： 10.1007/s12265-018-9859-0

Source DB:  PubMed          Journal:  J Cardiovasc Transl Res        ISSN： 1937-5387            Impact factor:   4.132


  5 in total

1.  Search for intermediate structures in transthyretin fibrillogenesis: soluble tetrameric Tyr78Phe TTR expresses a specific epitope present only in amyloid fibrils.

Authors:  C Redondo; A M Damas; A Olofsson; E Lundgren; M J Saraiva
Journal:  J Mol Biol       Date:  2000-12-01       Impact factor: 5.469

2.  Therapeutic advances demand accurate typing of amyloid deposits.

Authors:  E Anesi; G Palladini; V Perfetti; E Arbustini; L Obici; G Merlini
Journal:  Am J Med       Date:  2001-08-15       Impact factor: 4.965

3.  Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective.

Authors:  Claudio Rapezzi; Candida Cristina Quarta; Laura Obici; Federico Perfetto; Simone Longhi; Fabrizio Salvi; Elena Biagini; Massimiliano Lorenzini; Francesco Grigioni; Ornella Leone; Francesco Cappelli; Giovanni Palladini; Paola Rimessi; Alessandra Ferlini; Giorgio Arpesella; Antonio Daniele Pinna; Giampaolo Merlini; Stefano Perlini
Journal:  Eur Heart J       Date:  2012-06-28       Impact factor: 29.983

4.  A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis.

Authors:  Nadine Magy; Juris J Liepnieks; Helder Gil; Bernadette Kantelip; Jean-Louis Dupond; Barbara Kluve-Beckerman; Merrill D Benson
Journal:  Amyloid       Date:  2003-03       Impact factor: 7.141

5.  Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.

Authors:  Giulietta Riboldi; Roberto Del Bo; Michela Ranieri; Francesca Magri; Monica Sciacco; Maurizio Moggio; Nereo Bresolin; Stefania Corti; Giacomo P Comi
Journal:  Case Rep Neurol       Date:  2011-02-23
  5 in total

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