Myopathic Cardiac Genotypes Increase Risk for Myocarditis
Open accessAbstract
Background: Acute myocarditis (AM) is an important cause of heart failure and cardiomyopathy in adults and children, but risk factors are poorly understood. Mutations in genes related to cardiomyopathies have been implicated in children, suggesting overlap with other genetic myocardial disorders. Objectives: This study aimed to assess the prevalence of mutations in cardiac genes, including those associated with cardiomyopathies and neuromuscular disorders, among predominantly adult patients with AM. Methods: Genomic DNAs were obtained or extracted from blood from AM subjects from three separate cohorts (N=117; AM1=26, AM2=72, AM3=19), and next generation sequencing performed. Sex- and ancestry-matched controls without AM or cardiac disease and with available exome sequencing data from the BioMe biobank were included (N=468). Rates of deleterious variants (DV) in 93 cardiac genes were compared for cases and controls. Associations between DV status and histologic, viral and clinical outcomes were analyzed as secondary endpoints. Results: Based on a pooled burden meta-analysis (random effects), cardiac DV were statistically enriched in cases (AM1 19.2%, AM2 11.1%, AM3 31.6%) vs. respectively matched controls (5.6%, 7.6%, 7.9%) (P=0.013). Thirteen genes were implicated; of these, three (DYSF, DSP and TTN) were the source of DV for > 1 AM subject. No statistical differences were found between DV+ vs. DV- subjects for histologic AM classification, viral status or clinical outcome. Conclusions: Putatively damaging variants in genes related to cardiomyocyte structural integrity, classically associated with cardiomyopathy or neuromuscular disorders affecting the heart, are associated with increased risk for AM. Understanding viral-host genetic interactions may improve mechanistic insights in AM and clinical genetic testing may identify at-risk individuals.
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The ECG is abnormal in the majority of patients with myocarditis.
“The ECG is abnormal in the majority of patients with myocarditis”
From Autoimmune Myocarditis, Old Dogs and New Tricks. (2024) · cites this paper as [232]
The Results section reports characteristics of the acute-myocarditis cohorts, while the Conclusions address genetic variants and clinical outcomes. Neither states how often ECGs are abnormal; searches for ECG and electrocardiographic abnormalities found no passage addressing that frequency. (LLM, conf=0.70)
Experimental — accuracy not yet measuredECG in myocarditis can show either diffuse ST-segment elevations or ST-segment elevation in a coronary distribution.
“can show either diffuse STsegment elevations or ST-segment elevation in a coronary distribution.”
From Autoimmune Myocarditis, Old Dogs and New Tricks. (2024) · cites this paper as [232]
The Results section on genotype–phenotype associations reports histology and viral testing, but not ECG findings. Searches of our copy for ECG, ST-segment elevation, and coronary distribution found no passage addressing either claimed ST-elevation pattern; no page numbers were available. (LLM, conf=0.76)
Experimental — accuracy not yet measured
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Do Genes Influence Susceptibility to Myocarditis?
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Self-citationGlobal epidemiology of myocarditis: disparities in age, sex and geography
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Management Status of Myocarditis-Related Sudden Cardiac Death
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Red Flags in Acute Myocarditis
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Multifactorial Predisposition in Biopsy-Proven Autoimmune and Viral Myocarditis
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COVID-19–Associated Fulminant Myocarditis
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Sex and autoimmunity in acute myocarditis: time for a refresh
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The National Association of Medical Examiners (NAME) Position Paper
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Autoimmune and Autoinflammatory Genesis of Myocarditis and Pericarditis
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Titin Serum Level Is Elevated in Patients with Myocarditis Depending on Their Genetic Background
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- Authors
- Kontorovich, A. R., Patel, N., Moscati, A., Richter, F., Peter, I., Purevjav, E., Selejan, S. R., Kindermann, I., Towbin, J. A., Bohm, M., Klingel, K., & Gelb, B. D.
- Affiliations
- Icahn School of Medicine at Mount Sinai (US)
- University of Tennessee Health Science Center (US)
- Saarland University (DE)
- Universitätsklinikum Tübingen (DE)
- Corresponding author
- Kontorovich, Amy R.
- ORCID
- Venue
- JACC: Basic to Translational Science
- Publisher
- Elsevier BV
- Published
- 2021-07
- Volume
- 6
- Issue
- 7
- Pages
- 584-592
- ISSN
- 2452-302X (ISSN-L)
- PMC
- PMC8326270
- OpenAlex
- W3190606092
- Cited by
- 95
- References
- 43
- Citations by year
- 2026: 16 · 2025: 18 · 2024: 22 · 2023: 20 · 2022: 16 · 2021: 3
- FWCI
- 10.22
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- JACC Basic to Translational Science (publishedVersion, cc-by-nc-nd)
- SSRN Electronic Journal (acceptedVersion)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- Funders
- NHLBI (HL135742, HL140083)
- Deutsche Forschungsgemeinschaft (KL593 2-3, S10OD026880)
- National Institutes of Health
- Children's Cardiomyopathy Foundation
- 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, cardiomyopathy genes, DYSF, DSP, titin, deleterious mutations, genetic testing
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