Nikitina E, Kofeynikova O, Zlotina A, Pervunina T, Vasichkina E, Golovkin A, Kalinina O, Kostareva A. Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature. World J Clin Pediatr 2025; 14(4): 108329 [DOI: 10.5409/wjcp.v14.i4.108329]
Corresponding Author of This Article
Anna Kostareva, MD, Director, Professor, Institute of Molecular Biology and Genetics, Almazov National Medical Research Centre, Akkuratova Street 2, Saint-Petersburg 197341, Russia. anna.kostareva@ki.se
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Cardiac & Cardiovascular Systems
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Case Report
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This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Dec 9, 2025 (publication date) through Nov 3, 2025
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World Journal of Clinical Pediatrics
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2219-2808
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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
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Nikitina E, Kofeynikova O, Zlotina A, Pervunina T, Vasichkina E, Golovkin A, Kalinina O, Kostareva A. Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature. World J Clin Pediatr 2025; 14(4): 108329 [DOI: 10.5409/wjcp.v14.i4.108329]
World J Clin Pediatr. Dec 9, 2025; 14(4): 108329 Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.108329
Arrhythmogenic cardiomyopathy in children, on the link between injurious mutations and inflammation: Two case reports and review of the literature
Ekaterina Nikitina, Olga Kofeynikova, Anna Zlotina, Tatiana Pervunina, Elena Vasichkina, Alexey Golovkin, Olga Kalinina, Anna Kostareva
Ekaterina Nikitina, Anna Zlotina, Alexey Golovkin, Olga Kalinina, Anna Kostareva, Institute of Molecular Biology and Genetics, Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia
Olga Kofeynikova, Tatiana Pervunina, Elena Vasichkina, Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia
Olga Kalinina, Department of Laboratory Medicine with Clinic, Institution of Medical Education, Almazov National Medical Research Centre, Saint-Petersburg 197341, Russia
Co-corresponding authors: Olga Kalinina and Anna Kostareva.
Author contributions: Nikitina E collected, analyzed and interpreted the data, drafted the initial manuscript; Kofeynikova O contributed to the data collection process and clinical advice; Pervunina T and Vasichkina E provided clinical advice and conceptualized the study; Golovkin A participated in data analysis and interpretation; Zlotina A and Kalinina O contributed to project administration and funding acquisition; Kostareva A and Kalinina O conceptualized the study, analyzed and interpreted the data, drafted the initial manuscript; Kalinina O and Kostareva A have played important and indispensable roles in the experimental design, data interpretation and manuscript preparation as the co-corresponding authors; all authors contributed to manuscript editing and approved final version of the manuscript.
Supported by Russian Science Foundation, No. 24-15-20026/12.04.2024; and St. Petersburg Research Foundation, No. 24-15-20026/24.05.2024.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Anna Kostareva, MD, Director, Professor, Institute of Molecular Biology and Genetics, Almazov National Medical Research Centre, Akkuratova Street 2, Saint-Petersburg 197341, Russia. anna.kostareva@ki.se
Received: April 11, 2025 Revised: May 5, 2025 Accepted: July 15, 2025 Published online: December 9, 2025 Processing time: 203 Days and 22.8 Hours
Abstract
BACKGROUND
In this case report, we aimed to raise awareness regarding arrhythmogenic cardiomyopathy (ACM) with inflammatory “hot phase” episodes in pediatric patients, which is often misdiagnosed as myocarditis. This condition, caused by aseptic intracellular inflammation, can be misdiagnosed as acute coronary syndrome or myocardial viral infection, with the latter being particularly common in children. Here, we report two pediatric cases of ACM with “hot phase” episodes and discuss the molecular mechanisms leading to aseptic myocardial inflammation due to desmosome and cytoskeletal damage.
CASE SUMMARY
The first patient (aged 13 years) was hospitalized after experiencing a single episode of syncope, chest pain, and palpitation. Clinical examination revealed elevated troponin levels, complete right bundle branch block, right ventricular dilation, and normal coronary arteries. Cardiac magnetic resonance imaging (MRI) revealed extensive fibrotic changes in the right ventricle, which was consistent with ACM, and a pathogenic variant in DSG2 confirmed the diagnosis. The second patient (aged 4 years) presented with chest pain and elevated troponin levels. Electrocardiography revealed a left bundle branch block, while echocardiography showed reduced left ventricular contractility. Cardiac MRI demonstrated left ventricular dilation and subepicardial fibrosis. The phenotypic features, such as curly-wool hair, hyperkeratosis, and onychodystrophy, suggested a genetic nature of the disease. Two mutations identified in DSP confirmed the diagnosis of Carvajal syndrome with intermittent “hot phase” episodes.
CONCLUSION
ACM in children can present with nonspecific inflammatory symptoms, which may be misdiagnosed as myocarditis or coronary artery pathology.
Core Tip: Arrhythmogenic cardiomyopathy (ACM) is characterized by intercalated disc remodeling and cardiomyocytes death, which can lead to fibro-fatty replacement and severe heart failure. In some children, ACM presents with a “hot phase” and may be mistaken for acute myocarditis or coronary artery pathology. In this report, we describe two cases of the “hot phase” presentation and discuss the molecular mechanisms of this phenomenon.
