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Erschienen in: Current Cardiology Reports 9/2022

28.07.2022 | Myocardial Disease (A Abbate and M Merlo, Section Editors)

Emerging Genotype–Phenotype Associations in Dilated Cardiomyopathy

verfasst von: Joyce N. Njoroge, Jennifer C. Mangena, Chiaka Aribeana, Victoria N. Parikh

Erschienen in: Current Cardiology Reports | Ausgabe 9/2022

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Abstract

Purpose of Review

The disease burden of inherited dilated cardiomyopathy (DCM) is large and likely underestimated. This population stands to benefit immensely from therapeutic approaches tailored to the underlying genetic causes. Here, we review recent advances in understanding novel genotype–phenotype relationships and how these can improve the care of patients with inherited DCM.

Recent Findings

In the last several years, discovery of novel DCM-associated genes, gene-specific DCM outcomes, and nuanced information about variant-environment interactions have advanced our understanding of inherited DCM. Specifically, novel associations of genes with specific clinical phenotypes can help to assess sudden cardiac death risk and guide counseling around behavioral and environmental exposures that may worsen disease.

Summary

Important expansions of the current genotype-phenotype profiling include the newly DCM-associated FLNC variant, prognostically significant LMNA, DSP inflammatory cardiomyopathy, and the highly penetrant features of RBM20 variants as well as the role of TTN variants in compounding the effects of environmental factors on toxin-mediated DCM. Future directions to improve diagnostic accuracy and prognostic improvement in DCM will center not just on identification of new genes, but also on understanding the interaction of known and novel variants in known DCM genes with patient genetic background and environment.
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Metadaten
Titel
Emerging Genotype–Phenotype Associations in Dilated Cardiomyopathy
verfasst von
Joyce N. Njoroge
Jennifer C. Mangena
Chiaka Aribeana
Victoria N. Parikh
Publikationsdatum
28.07.2022
Verlag
Springer US
Erschienen in
Current Cardiology Reports / Ausgabe 9/2022
Print ISSN: 1523-3782
Elektronische ISSN: 1534-3170
DOI
https://doi.org/10.1007/s11886-022-01727-z

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