Article
A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.
The Canadian journal of cardiology - 1 Sept 2020
Vitale Giovanni, Pasquale Ferdinando, Leone Ornella, Cenacchi Giovanna, Niro Fabio, Torrado Mario, Maneiro Emilia, Graziosi Maddalena, Ditaranto Raffaello, Capelli Irene, Monserrat Lorenzo, Rapezzi Claudio, Biagini Elena
Abstract excerpt
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.
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