Please use this identifier to cite or link to this item:
10.3390/jcdd10030104
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DC Field | Value | Language |
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dc.contributor.author | Rudaka, Irina | - |
dc.contributor.author | Vilne, Baiba | - |
dc.contributor.author | Isakova, Jekaterina | - |
dc.contributor.author | Kalejs, Oskars | - |
dc.contributor.author | Gailite, Linda | - |
dc.contributor.author | Rots, Dmitrijs | - |
dc.date.accessioned | 2023-06-07T11:15:02Z | - |
dc.date.available | 2023-06-07T11:15:02Z | - |
dc.date.issued | 2023-03 | - |
dc.identifier.citation | Rudaka , I , Vilne , B , Isakova , J , Kalejs , O , Gailite , L & Rots , D 2023 , ' Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors ' , Journal of Cardiovascular Development and Disease , vol. 10 , no. 3 , 104 . https://doi.org/10.3390/jcdd10030104 | - |
dc.identifier.issn | 2308-3425 | - |
dc.identifier.other | Mendeley: baa8097a-a838-32bd-a70e-cfd6af1ecd0f | - |
dc.identifier.uri | https://dspace.rsu.lv/jspui/handle/123456789/12318 | - |
dc.description | Funding Information: This research was funded by the Latvian Council of Science, project, “The role of clonal hemato-poiesis of indeterminate potential as a potential driver of cardiovascular diseases and its associ-ation with clinical outcome”, project No. lzp-2021/1-0293. Publisher Copyright: © 2023 by the authors. | - |
dc.description.abstract | Background: Atrial fibrillation (AF) is the most common arrhythmia and typically occurs in elderly patients with other cardiovascular and extracardiac diseases. However, up to 15% of AF develops without any related risk factors. Recently, the role of genetic factors has been highlighted in this particular form of AF. Aims: The aims of this study were to determine the prevalence of pathogenic variants in early-onset AF in patients without known disease-related risk factors and to identify any structural cardiac abnormalities in these patients. Materials and Methods: We conducted exome sequencing and interpretation in 54 risk factor-free early-onset AF patients and further validated our findings in a similar AF patient cohort from the UK Biobank. Results: Pathogenic/likely pathogenic variants were found in 13/54 (24%) patients. The variants were identified in cardiomyopathy-related and not arrhythmia-related genes. The majority of the identified variants were TTN gene truncating variants (TTNtvs) (9/13 (69%) patients). We also observed two TTNtvs founder variants in the analysed population—c.13696C>T p.(Gln4566Ter) and c.82240C>T p.(Arg27414Ter). Pathogenic/likely pathogenic variants were found in 9/107 (8%) individuals from an independent similar AF patient cohort from the UK Biobank. In correspondence with our Latvian patients, only variants in cardiomyopathy-associated genes were identified. In five (38%) of the thirteen Latvian patients with pathogenic/likely pathogenic variants, dilation of one or both ventricles was identified on a follow-up cardiac magnetic resonance scan. Conclusions: We observed a high prevalence of pathogenic/likely pathogenic variants in cardiomyopathy-associated genes in patients with risk factor-free early-onset AF. Moreover, our follow-up imaging data indicate that these types of patients are at risk of developing ventricular dilation. Furthermore, we identified two TTNtvs founder variants in our Latvian study population. | en |
dc.format.extent | 273416 | - |
dc.language.iso | eng | - |
dc.relation.ispartof | Journal of Cardiovascular Development and Disease | - |
dc.rights | info:eu-repo/semantics/openAccess | - |
dc.subject | early-onset atrial fibrillation | - |
dc.subject | genetics | - |
dc.subject | next-generation sequencing | - |
dc.subject | pathogenic variants | - |
dc.subject | 3.1 Basic medicine | - |
dc.subject | 1.1. Scientific article indexed in Web of Science and/or Scopus database | - |
dc.subject | Pharmacology, Toxicology and Pharmaceutics(all) | - |
dc.subject | Pharmacology (medical) | - |
dc.title | Genetic Basis of Early Onset Atrial Fibrillation in Patients without Risk Factors | en |
dc.type | /dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article | - |
dc.identifier.doi | 10.3390/jcdd10030104 | - |
dc.contributor.institution | Scientific Laboratory of Molecular Genetics | - |
dc.contributor.institution | Bioinformatics Group | - |
dc.identifier.url | http://www.scopus.com/inward/record.url?scp=85151093413&partnerID=8YFLogxK | - |
dc.identifier.url | https://www.mendeley.com/catalogue/baa8097a-a838-32bd-a70e-cfd6af1ecd0f/ | - |
dc.description.status | Peer reviewed | - |
Appears in Collections: | Research outputs from Pure / Zinātniskās darbības rezultāti no ZDIS Pure |
Files in This Item:
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Genetic_Basis_of_Early_Onset_Atrial_Fibrillation_in_Patients_without_Risk_Factors.pdf | 267.01 kB | Adobe PDF | View/Open |
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