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Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Lamounier Júnior, Arsonval ; Ferrari, Filipe ; Max, Renato ; Ritt, Luiz Eduardo Fonteles ; Stein, Ricardo

Arquivos brasileiros de cardiologia, 2019-08, Vol.113 (2), p.274-281 [Periódico revisado por pares]

Brazil: Sociedade Brasileira de Cardiologia - SBC

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Título:
Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice
Autor: Lamounier Júnior, Arsonval ; Ferrari, Filipe ; Max, Renato ; Ritt, Luiz Eduardo Fonteles ; Stein, Ricardo
Assuntos: Adult ; CARDIAC & CARDIOVASCULAR SYSTEMS ; Cardiomiopatia Dilatada/genética ; Cardiomyopathy, Dilated - diagnosis ; Cardiomyopathy, Dilated - genetics ; Disfunção Ventricular Esquerda ; Genetic Testing - methods ; Humans ; Insuficiência Cardíaca ; Male ; Mutation ; Phenotype ; Prognosis ; Review ; Testes Genéticos/métodos ; Transplante de Coração
É parte de: Arquivos brasileiros de cardiologia, 2019-08, Vol.113 (2), p.274-281
Notas: ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-3
content type line 23
ObjectType-Feature-5
ObjectType-Article-4
ObjectType-Report-1
Descrição: Dilated cardiomyopathy (DCM) is a clinical syndrome characterized by left ventricular dilatation and contractile dysfunction. It is the most common cause of heart failure in young adults. The advent of next-generation sequencing has contributed to the discovery of a large amount of genomic data related to DCM. Mutations involving genes that encode cytoskeletal proteins, the sarcomere, and ion channels account for approximately 40% of cases previously classified as idiopathic DCM. In this scenario, geneticists and cardiovascular genetics specialists have begun to work together, building knowledge and establishing more accurate diagnoses. However, proper interpretation of genetic results is essential and multidisciplinary teams dedicated to the management and analysis of the obtained information should be considered. In this review, we approach genetic factors associated with DCM and their prognostic relevance and discuss how the use of genetic testing, when well recommended, can help cardiologists in the decision-making process.
Editor: Brazil: Sociedade Brasileira de Cardiologia - SBC
Idioma: Inglês;Português

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Importance of Genetic Testing in Dilated Cardiomyopathy: Applications and Challenges in Clinical Practice

Lamounier Júnior, Arsonval ; Ferrari, Filipe ; Max, Renato ; Ritt, Luiz Eduardo Fonteles ; Stein, Ricardo

Brazil: Sociedade Brasileira de Cardiologia - SBC

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