Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis
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Background Acute myocarditis is an inflammatory condition that may precede the development of dilated or arrhythmogenic cardiomyopathy. Objectives The aim of this study was to investigate the reported prevalence of pathogenic or likely pathogenic (P/LP) variants in cardiomyopathy-associated genes in patients with acute myocarditis. Methods For this systematic review and meta-analysis, the PubMed and Embase databases were searched on March 4, 2023. Observational studies evaluating the prevalence of P/LP variants in cardiomyopathy-associated genes in patients with acute myocarditis were included. Studies were stratified into adult and pediatric age groups and for the following scenarios: 1) complicated myocarditis (ie, presenting with acute heart failure, reduced left ventricular ejection fraction, or life-threatening ventricular arrhythmias); and 2) uncomplicated myocarditis. The study was registered with the International Prospective Register of Systematic Reviews (CRD42023408668) and followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Results Of 732 studies identified, 8 met the inclusion criteria, providing data for 586 patients with acute myocarditis. A total of 89 P/LP variants in cardiomyopathy-associated genes were reported in 85 patients. For uncomplicated myocarditis, the pooled prevalence was 4.2% (95% CI: 1.8%-7.4%; I 2 = 1.4%), whereas for complicated myocarditis, the pooled prevalence was 21.9% (95% CI: 14.3%-30.5%; I 2 = 38.8%)…
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Mutations, especially involving sarcomeric gene variants, are more prevalent in patients with complicated acute myocarditis.
“meta-analysis of observational studies of patients with acute myocarditis found mutations, especially involving sarcomeric gene variants, are more prevalent in those with complicated myocarditis.”
From Autoimmune Myocarditis, Old Dogs and New Tricks. (2024) · cites this paper as [222]
Cites
The PRISMA 2020 statement: An updated guideline for reporting systematic reviews
Page, M. J., McKenzie, J. E., Bossuyt, P. M., Boutron, I., Hoffmann, T. C., Mulrow, C. D., Shamseer, L., Tetzlaff, J. M., Akl, E. A., Brennan, S. E., et al. (2021) · BMJ · doi:10.1136/bmj.n71 · Cited by 108,283 · see citing works
Richards, S., Aziz, N., Bale, S., Bick, D., Das, S., Gastier-Foster, J., Grody, W. W., Hegde, M., Lyon, E., Spector, E., et al. (2015) · Genetics in Medicine · doi:10.1038/gim.2015.30 · Cited by 32,594 · see citing works
Munn, Z., Aromataris, E., Tufanaru, C., Stern, C., Porritt, K., Farrow, J., Lockwood, C., Stephenson, M., Moola, S., Lizarondo, L., et al. (2019) · International Journal of Evidence-Based Healthcare · doi:10.1097/xeb.0000000000000152 · Cited by 977 · see citing works
Ammirati, E., Frigerio, M., Adler, E. D., Basso, C., Birnie, D. H., Brambatti, M., Friedrich, M. G., Klingel, K., Lehtonen, J., Moslehi, J. J., et al. (2020) · Circulation: Heart Failure · doi:10.1161/circheartfailure.120.007405 · Cited by 811 · see citing works
Myopathic Cardiac Genotypes Increase Risk for Myocarditis
Kontorovich, A. R., Patel, N., Moscati, A., Richter, F., Peter, I., Purevjav, E., Selejan, S. R., Kindermann, I., Towbin, J. A., Bohm, M., et al. (2021) · JACC: Basic to Translational Science · doi:10.1016/j.jacbts.2021.06.001 · Cited by 95 · see citing works
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Autoimmune Myocarditis, Old Dogs and New Tricks.
Won, T., Song, E. J., Kalinoski, H. M., Moslehi, J. J., & Čiháková, D. (2024) · Circulation Research · doi:10.1161/circresaha.124.323816 · Cited by 51 · see citing works
Evolution in the Diagnosis and Treatment of Myocarditis in Recent Years: State of the Art
Campodonico, J., Lauri, C., Pezzuto, B., Agostoni, P., & Vignati, C. (2025) · Journal of Clinical Medicine · doi:10.3390/jcm14217661 · Cited by 6 · see citing works
- Authors
- Monda, E., Bakalakos, A., Cannie, D., O’Mahony, C., Syrris, P., Kaski, J. P., Limongelli, G., & Elliott, P. M.
- Affiliations
- University of Campania "Luigi Vanvitelli" (IT)
- St Bartholomew's Hospital (GB)
- University College London (GB)
- Great Ormond Street Hospital (GB)
- Corresponding author
- Monda, Emanuele
- ORCID
- Venue
- JACC: Heart Failure
- Publisher
- Elsevier BV
- Published
- 2024-06
- Volume
- 12
- Issue
- 6
- Pages
- 1101-1111
- ISSN
- 2213-1779 (ISSN-L)
- OpenAlex
- W4393861336
- Cited by
- 86
- References
- 5
- Citations by year
- 2026: 40 · 2025: 34 · 2024: 12
- FWCI
- 6.82
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- JACC Heart Failure (publishedVersion)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università degli Studi della Campania "Luigi Vanvitelli" (submittedVersion)
- Funders
- Medical Research Council (MR/T024062/1)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Viral Infections and Immunology Research
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiovascular Effects of Exercise
- Keywords
- acute myocarditis, pathogenic variants, genetic susceptibility, desmosomal genes, sarcomeric genes, dilated cardiomyopathy, arrhythmogenic cardiomyopathy, prevalence, pediatric myocarditis, ventricular arrhythmias
- MeSH terms
- Acute Disease, Humans, Cardiomyopathies, Myocarditis, Prevalence
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