Rare association of two genetic causes of sudden death in a young survivor

Utilize este identificador para referenciar este registo: http://hdl.handle.net/10451/33975

Título:	Rare association of two genetic causes of sudden death in a young survivor
Autor:	Brito, Dulce Magalhães, Andreia Dias, Nuno Cortez Miltenberger-Miltenyi, Gabriel
Palavras-chave:	Death, sudden cardiac Cardiomyopathy, hypertrophic, familial Adolescent Brugada syndrome
Data:	2017
Editora:	Sociedade Brasileira de Cardiologia
Citação:	Arq Bras Cardiol. 2017 Feb; 108(2): 184-186
Resumo:	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
Peer review:	yes
URI:	http://hdl.handle.net/10451/33975
DOI:	10.5935/abc.20170016
ISSN:	0066-782X
Versão do Editor:	http://publicacoes.cardiol.br/portal/abc/portugues/2018/v11006/
Aparece nas colecções:	FM-CCUL-Artigos em Revistas Internacionais IMM - Artigos em Revistas Internacionais

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Rara_Associacao_PT.pdf		513,95 kB	Adobe PDF	Ver/Abrir Acesso Restrito. Solicitar cópia ao autor!