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 / 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.. - In: CANADIAN JOURNAL OF CARDIOLOGY. - ISSN 0828-282X. - STAMPA. - 36:9(2020), pp. 1554-1557. [10.1016/j.cjca.2020.04.008]
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
