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A pathogenic galactosidase a mutation coexisting with an MYBPC3 mutation in a female patient with hypertrophic cardiomyopathy

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Identifiers

URI: http://hdl.handle.net/2183/41927
DOI: 10.1016/j.cjca.2020.04.008

Publication date

2020-09

Authors

Vitale, Giovanni
Pasquale, Ferdinando
Leone, Ornella
Cenacchi, Giovanna
Niro, Fabio
Maneiro, Emilia
Graziosi, Maddalena
Ditaranto, Raffaello
Capelli, Irene

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Journal Title

Bibliographic citation

Vitale G, Pasquale F, Leone O, Cenacchi G, Niro F, Torrado M, Maneiro E, Graziosi M, Ditaranto R, Capelli I, Monserrat L, Rapezzi C, Biagini E. A pathogenic galactosidase a mutation coexisting with an MYBPC3 mutation in a female patient with hypertrophic cardiomyopathy. Can J Cardiol. 2020 Sep;36(9):1554.e1-1554.e3.

Type of academic work

Academic degree

Abstract

[Abstract] The coexistence of GLA (Pro259Ser, c.775C>T) and MYBPC3 (c.1351+2T>C) mutations was found in a female patient with hypertrophic cardiomyopathy. Histology documented abundant vacuolisation with osmiophilic lamellar bodies and positive Gb3 immunohistochemistry. In the presence of a hypertrophic cardiomyopathy phenotype, the systematic search for unusual findings is mandatory to rule out a phenocopy.
[Resumé] On a observé la coexistence de mutations des gènes GLA (Pro259Ser, c.775C>T) et MYBPC3 (c.1351+2T>C) chez une patiente atteinte d’une cardiomyopathie hypertrophique. L’examen histologique a révélé une vacuolisation importante et la présence de corps lamellaires osmiophiles, et l’analyse par immunohistochimie a mis au jour la présence de globotriaosylcéramides (Gb3). En présence d’un phénotype de cardiomyopathie hypertrophique, il est impératif de rechercher systématiquement les anomalies afin d’écarter la possibilité d’une phénocopie.

Description

Case report

Keywords

Cardiomyopathy, Hypertrophic Carrier Proteins DNA Galactosidases Genetic Predisposition to Disease Mutation Myocardium

Editor version

https://doi.org/10.1016/j.cjca.2020.04.008

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Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC-BY-NC-ND 4.0)

Except where otherwise noted, this item's license is described as Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC-BY-NC-ND 4.0)