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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.

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