Genetic testing in cardiomyopathies: an update on indications and benefits.
Curr Opin Cardiol
; 32(2): 189-195, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-27861187
ABSTRACT
PURPOSE OF REVIEW As rapid genetic testing has become increasingly accessible in a timely fashion, more genetic mutations are identified in inherited conditions such as cardiomyopathies. Understanding when to consider genetic testing is an important part of the management of patients whose presentations vary from decompensated heart failure to sudden cardiac death. RECENT FINDINGS:
We describe the benefits of genetic testing for risk stratification of family members, prognostication of probands, and identification of novel disease-causing mutations and examine the possible role of genetic predisposition in seemingly acquired cardiomyopathies such as peripartum and anthracycline-induced cardiomyopathy.SUMMARY:
Genetic screening for the recognition of family members who have inherited a cardiomyopathy is important, and testing may identify patients at higher risk of sudden death. However, genetic testing does have its limitations, such as the identification of variants of unknown significance that often complicate the clinical picture.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Testes Genéticos
/
Morte Súbita Cardíaca
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Cardiomiopatias
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article