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Canadian Journal of Cardiology

A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy

Published:April 14, 2020DOI:https://doi.org/10.1016/j.cjca.2020.04.008

      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.

      Résumé

      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.
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