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
. 2023 Feb;53(2):178-185.
doi: 10.1111/imj.15921. Epub 2022 Sep 21.

Non-ischaemic dilated cardiomyopathy: recognising the genetic links

Caitlin Paul  1   2 , Stacey Peters  3   4   5 , Mark Perrin  1   3 , Diane Fatkin  6   7   8 , John Amerena  1   2
Affiliations
Review

Non-ischaemic dilated cardiomyopathy: recognising the genetic links

Caitlin Paul et al. Intern Med J. 2023 Feb.

Abstract

The landscape of genetically related cardiac disease continues to evolve. Heritable genetic variants can be a primary cause of familial or sporadic dilated cardiomyopathy (DCM). There is also increasing recognition that genetic variation is an important determinant of susceptibility to acquired causes of DCM. Genetic forms of DCM can show a wide variety of phenotypic manifestations. Identifying patients who are most likely to benefit from genetic testing is paramount. The objective of this review is to highlight the importance of recognising genetic DCM, key genotype-phenotype correlations and the value of genetic testing in clinical management for both the individual and their family. This is likely to become more relevant as management strategies continue to be refined with genotype-specific recommendations and disease-modifying therapies.

Keywords: dilated cardiomyopathy; genetic testing; genetics.

PubMed Disclaimer

References

    1. Pasqualucci D, Iacovoni A, Palmieri V, De Maria R, Iacoviello M, Battistoni I et al. Epidemiology of cardiomyopathies: essential context knowledge for a tailored clinical work-up. Eur J Prev Cardiol 2020; 29: 1190-9.
    1. Hudson L, Morales A, Mauro AC, Whellan D, Adams KF, O'Connor CM et al. Family history of dilated cardiomyopathy among patients with heart failure from the HF-ACTION genetic ancillary study. Clin Transl Sci 2013; 6: 179-83.
    1. Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL et al. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med 2018; 20: 899-909.
    1. McNally EM, Golbus JR, Puckelwartz MJ. Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest 2013; 123: 19-26.
    1. Australian Bureau of Statistics. Cultural Diversity in Australia. ABS website; 2016.

LinkOut - more resources