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A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.
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.
Affiliation
  • Vitale G; Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy.
  • Pasquale F; Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy.
  • Leone O; Cardiovascular Pathology Unit, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
  • Cenacchi G; Department of Biomedical and Neuromotor Science, University of Bologna, Bologna, Italy.
  • Niro F; Cardiothoracic Radiology Unit, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
  • Torrado M; Institute of Health Sciences, University of A Coruña, A Coruña, Spain.
  • Maneiro E; Health in Code, A Coruña, Spain.
  • Graziosi M; Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy.
  • Ditaranto R; Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy.
  • Capelli I; Nephrology, Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna, Italy.
  • Monserrat L; Health in Code, A Coruña, Spain.
  • Rapezzi C; Cardiology, University of Ferrara and Maria Cecilia Hospital, Cotignola, Italy; GVM Care and Research, Cotignola, Italy.
  • Biagini E; Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy. Electronic address: elena.biagini73@gmail.com.
Can J Cardiol ; 36(9): 1554.e1-1554.e3, 2020 09.
Article in En | MEDLINE | ID: mdl-32710830
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / DNA / Carrier Proteins / Genetic Predisposition to Disease / Galactosidases / Mutation / Myocardium Type of study: Diagnostic_studies Limits: Female / Humans / Middle aged Language: En Journal: Can J Cardiol Journal subject: CARDIOLOGIA Year: 2020 Document type: Article Affiliation country: Italy
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / DNA / Carrier Proteins / Genetic Predisposition to Disease / Galactosidases / Mutation / Myocardium Type of study: Diagnostic_studies Limits: Female / Humans / Middle aged Language: En Journal: Can J Cardiol Journal subject: CARDIOLOGIA Year: 2020 Document type: Article Affiliation country: Italy