Sudden death in mild hypertrophic cardiomyopathy with compound DSG2/DSC2/MYH6 mutations: Revisiting phenotype after genetic assessment in a master runner athlete.
J Electrocardiol
; 53: 95-99, 2019.
Article
em En
| MEDLINE
| ID: mdl-30716529
ABSTRACT
Cardiomyopathies represent a well-known cause of heart failure and sudden death. Although cardiomyopathies are generally categorized in distinct nosographic entities, characterized by single gene-to-disease causal relationships, recently, oligogenic mutations have also been associated to relevant cardiac clinical features. We report the case of a master athlete carrying trigenic mutations in desmoglein-2 (DSG2), desmocollin-2 (DSC2) and heavy chain myosin 6 (MYH6), which determine a mild hypertrophic phenotype associated both to ventricular tachyarrhythmias and atrio-ventricular block. We discuss the differential diagnosis and prognostic approach in patient affected by complex cardiomyopathy phenotype, along with the importance of sport restriction and sudden death prevention.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Cardiomiopatia Hipertrófica
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Morte Súbita Cardíaca
/
Atletas
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
/
Middle aged
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article