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.

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

Pasquale F.;Cenacchi G.;Graziosi M.;Ditaranto R.;Capelli I.;Rapezzi C.;
2020

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.
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.
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/11585/785094
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