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

• Main Authors: Arsonval Lamounier Júnior, Filipe Ferrari, Renato Max, Luiz Eduardo Fonteles Ritt, Ricardo Stein
• Format: Article
• Language: English
• Published: Sociedade Brasileira de Cardiologia (SBC)
• Series: Arquivos Brasileiros de Cardiologia
• Subjects: Cardiomiopatia Dilatada/genética; Disfunção Ventricular Esquerda; Insuficiência Cardíaca; Testes Genéticos/métodos; Transplante de Coração
• Online Access: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0066-782X2019000800274&lng=en&tlng=en

Abstract 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.