A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy
| Autor: | Lorenzo Monserrat, Maddalena Graziosi, Irene Capelli, Ornella Leone, Mario Torrado, Giovanna Cenacchi, Emilia Maneiro, Raffaello Ditaranto, Ferdinando Pasquale, Claudio Rapezzi, Fabio Niro, Giovanni Vitale, Elena Biagini |
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| Přispěvatelé: | 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. |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty MYBPC3 Mutation- Fabry disease- cardiomyopathy Cardiomyopathy Hypertrophic Cardiomyopathy 030204 cardiovascular system & hematology medicine.disease_cause NO 03 medical and health sciences 0302 clinical medicine Biopsy Medicine 030212 general & internal medicine Phenocopy Mutation medicine.diagnostic_test MYBPC3 Mutation business.industry Hypertrophic cardiomyopathy Histology medicine.disease Phenotype Immunohistochemistry Hypertrophic Cardiomyopathy MYBPC3 Mutation Cardiology and Cardiovascular Medicine business |
| Zdroj: | Canadian Journal of Cardiology. 36:1554.e1-1554.e3 |
| ISSN: | 0828-282X |
| DOI: | 10.1016/j.cjca.2020.04.008 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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