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Review
. 2023 Oct 16;24(20):15221.
doi: 10.3390/ijms242015221.

The Role of Genetics in the Management of Heart Failure Patients

Gianpaolo Palmieri  1 , Maria Francesca D'Ambrosio  2 , Michele Correale  1 , Natale Daniele Brunetti  1 , Rosa Santacroce  2 , Massimo Iacoviello  3 , Maurizio Margaglione  2
Affiliations
Review

The Role of Genetics in the Management of Heart Failure Patients

Gianpaolo Palmieri et al. Int J Mol Sci. .

Abstract

Over the last decades, the relevance of genetics in cardiovascular diseases has expanded, especially in the context of cardiomyopathies. Its relevance extends to the management of patients diagnosed with heart failure (HF), given its capacity to provide invaluable insights into the etiology of cardiomyopathies and identify individuals at a heightened risk of poor outcomes. Notably, the identification of an etiological genetic variant necessitates a comprehensive evaluation of the family lineage of the affected patients. In the future, these genetic variants hold potential as therapeutic targets with the capability to modify gene expression. In this complex setting, collaboration among cardiologists, specifically those specializing in cardiomyopathies and HF, and geneticists becomes paramount to improving individual and family health outcomes, as well as therapeutic clinical results. This review is intended to offer geneticists and cardiologists an updated perspective on the value of genetic research in HF and its implications in clinical practice.

Keywords: diagnosis; genetics; heart failure; prognosis; therapy.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
The figure summarizes the current approaches of gene therapy.
Figure 2
Figure 2
Influence of genetic background on heart failure onset and progression.
Figure 3
Figure 3
The management of inherited cardiomyopathy should be based on a multidisciplinary approach in which the specialists for heart failure and cardiomyopathies cooperate with the geneticist, in the different stage of heart failure, in order to better manage the patients and their family members. HF: heart failure; QoL: quality of life; SCD: sudden cardiac death; VAD: ventricular assist device.
See this image and copyright information in PMC

References

    1. Shah R.A., Asatryan B., Sharaf Dabbagh G., Aung N., Khanji M.Y., Lopes L.R., Van Duijvenboden S., Holmes A., Muser D., Landstrom A.P., et al. Genotype-first approach I. Frequency, penetrance, and variable expressivity of dilated cardiomyopathy-associated putative pathogenic gene variants in UK Biobank participants. Circulation. 2022;146:110–124. doi: 10.1161/CIRCULATIONAHA.121.058143. - DOI - PMC - PubMed
    1. De Marvao A., McGurk K.A., Zheng S.L., Thanaj M., Bai W., Duan J., Biffi C., Mazzarotto F., Statton B., Dawes T.J.W., et al. Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2021;78:1097–1110. doi: 10.1016/j.jacc.2021.07.017. - DOI - PMC - PubMed
    1. McGurk K.A., Zheng S.L., Henry A., Josephs K., Edwards M., De Marvao A., Whiffin N., Roberts A., Lumbers T.R., O’Regan D.P., et al. Correspondence on “ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)” by Miller et al. Genet. Med. 2022;24:744–746. doi: 10.1016/j.gim.2021.10.020. - DOI - PubMed
    1. Wahbi K., Ben Yaou R., Gandjbakhch E., Anselme F., Gossios T., Lakdawala N.K., Stalens C., Sacher F., Babuty D., Trochu J.N., et al. Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies. Circulation. 2019;140:293–302. doi: 10.1161/CIRCULATIONAHA.118.039410. - DOI - PubMed
    1. Van Rijsingen I.A., Arbustini E., Elliott P.M., Mogensen J., Hermans-van Ast J.F., Van Der Kooi A.J., Van Tintelen J.P., Van den Berg M.P., Pilotto A., Pasotti M., et al. Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers a European cohort study. J. Am. Coll. Cardiol. 2012;59:493–500. doi: 10.1016/j.jacc.2011.08.078. - DOI - PubMed