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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References
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Article info
Publication history
Published online: April 14, 2020
Accepted:
April 6,
2020
Received:
June 17,
2019
Footnotes
See page 1554.e3 for disclosure information.
Identification
Copyright
© 2020 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
