Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2019 Sep 2;113(2):274-281.
doi: 10.5935/abc.20190144.

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

[Article in English, Portuguese]
Arsonval Lamounier Júnior  1   2 , Filipe Ferrari  3   4 , Renato Max  5 , Luiz Eduardo Fonteles Ritt  6   7 , Ricardo Stein  3   4
Affiliations
Review

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

[Article in English, Portuguese]
Arsonval Lamounier Júnior et al. Arq Bras Cardiol. .

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.

PubMed Disclaimer

Conflict of interest statement

Potential Conflict of Interest

No potential conflict of interest relevant to this article was reported.

Figures

Figure 1
Figure 1
Cardiac magnetic resonance imaging showing extensive and diffuse area of mesocardial fibrosis.
Figure 2
Figure 2
Index case heredogram showing involvement in first, second and third degree relatives. AF: atrial fibrillation.
See this image and copyright information in PMC

References

    1. Weber R, Kantor P, Chitayat D, Friedberg MK, Golding F, Mertens L, et al. Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life. JACC Heart Fail. 2014;2(4):403–411. - PubMed
    1. Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016 Jun 14;37(23):1850–1858. - PubMed
    1. Bakalakos A, Ritsatos K, Anastasakis A. Current perspectives on the diagnosis and management of dilated cardiomyopathy Beyond heart failure: a Cardiomyopathy Clinic Doctor’s point of view. Hellenic J Cardiol. 2018 May 25; - PubMed
    1. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10(9):531–547. - PubMed
    1. Dadson K, Hauck L, Billia F. Molecular mechanisms in cardiomyopathy. Clin Sci (Lond) 2017;131(13):1375–1392. - PubMed