The genetic factors influencing cardiomyopathies and heart failure across the allele frequency spectrum
File(s)
Published version
Author(s)
Mukhopadhyay, Srinjay
Dixit, Prithvi
Khanom, Najiyah
Sanghera, Gianluca
McGurk, Kathryn
Type
Journal Article
Abstract
Heart failure (HF) remains a major cause of mortality and morbidity worldwide. Understanding the genetic basis of HF allows for the development of disease-modifying therapies, more appropriate risk stratification, and personalised management of patients. The advent of next-generation sequencing has enabled genome-wide association studies; moving beyond rare variants identified in a Mendelian fashion and detecting common DNA variants associated with disease. We summarise the latest GWAS and rare variant data on mixed and refined HF aetiologies, and cardiomyopathies. We describe the recent understanding of the functional impact of titin variants and highlight FHOD3 as a novel cardiomyopathy-associated gene. We describe future directions of research in this field and how genetic data can be leveraged to improve the care of patients with HF.
Date Issued
2024-10-01
Date Acceptance
2024-05-03
Citation
Journal of Cardiovascular Translational Research, 2024, 17, pp.1119-1139
ISSN
1937-5395
Publisher
Springer
Start Page
1119
End Page
1139
Journal / Book Title
Journal of Cardiovascular Translational Research
Volume
17
Copyright Statement
© The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.
License URL
Identifier
https://link.springer.com/article/10.1007/s12265-024-10520-y
Publication Status
Published
Date Publish Online
2024-05-21