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

Giovanni Vitale; Ferdinando Pasquale; Ornella Leone; Giovanna Cenacchi; Fabio Niro; Mario Torrado; Emilia Maneiro; Maddalena Graziosi; Raffaello Ditaranto; Irene Capelli; Lorenzo Monserrat; Claudio Rapezzi; Elena Biagini

doi:10.1016/j.cjca.2020.04.008

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

Can J Cardiol. 2020 Sep;36(9):1554.e1-1554.e3. doi: 10.1016/j.cjca.2020.04.008. Epub 2020 Apr 14.

Authors

Affiliations

¹ Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy.
² Cardiovascular Pathology Unit, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
³ Department of Biomedical and Neuromotor Science, University of Bologna, Bologna, Italy.
⁴ Cardiothoracic Radiology Unit, Sant'Orsola-Malpighi Hospital, Bologna, Italy.
⁵ Institute of Health Sciences, University of A Coruña, A Coruña, Spain.
⁶ Health in Code, A Coruña, Spain.
⁷ Nephrology, Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna, Italy.
⁸ Cardiology, University of Ferrara and Maria Cecilia Hospital, Cotignola, Italy; GVM Care and Research, Cotignola, Italy.
⁹ Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy. Electronic address: [email protected].

PMID: 32710830
DOI: 10.1016/j.cjca.2020.04.008

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.

Publication types

Case Reports

MeSH terms

Biopsy
Cardiomyopathy, Hypertrophic / diagnosis
Cardiomyopathy, Hypertrophic / genetics*
Cardiomyopathy, Hypertrophic / metabolism
Carrier Proteins / genetics*
DNA / genetics*
DNA Mutational Analysis
Echocardiography
Female
Galactosidases / genetics*
Galactosidases / metabolism
Genetic Predisposition to Disease*
Humans
Middle Aged
Mutation*
Myocardium / metabolism*
Myocardium / pathology
Myosins
Pedigree
Phenotype

Substances

Carrier Proteins
myosin-binding protein C
DNA
Galactosidases
Myosins