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Publicação
Rare association of two genetic causes of sudden death in a young survivor
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Orientador(es)
Resumo(s)
Introduction: Sudden cardiac arrest (SCA) in young adults is frequently caused by inherited cardiac diseases, particularly cardiomyopathies and ion channelopathies. 1 Genetic testing can be essential in the follow-up of survivors and today´s genetic diagnostics may include the parallel analysis of several SCA related genes, most commonly those associated with ion channelopathies and hypertrophic cardiomyopathy (HC). We present the case of a young survivor of SCA, carrier of double heterozygosity for mutations in the SNC5A and MYBPC3 genes, illustrating the complexity of genotype-phenotype associations and the difficulties of decisions regarding therapeutic interventions in inherited cardiac diseases.
Descrição
Todos os Direitos Reservados © Copyright 2018 | Sociedade Brasileira de Cardiologia
Palavras-chave
Death, sudden cardiac Cardiomyopathy, hypertrophic, familial Adolescent Brugada syndrome
Contexto Educativo
Citação
Arq Bras Cardiol. 2017 Feb; 108(2): 184-186
Editora
Sociedade Brasileira de Cardiologia