ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1631632
This article is part of the Research TopicMolecular Diagnostics for Cardiovascular Rare DiseaseView all articles
Exploration of Calcium and Amino Acids for Children with Primary Cardiomyopathies Based on Genetic Characteristics
Provisionally accepted
- 1First Central Hospital, Tianjin Medical University, Tianjin, China
- 2Tianjin Children’s Hospital, Children’s Hospital, Tianjin University, Tianjin, China
- 3Precision Medicine Laboratory, Tianjin University Precision Medicine Center, Tianjin Children's Hospital, Children's Hospital, Tianjin, China
- 4Tianjin University of Traditional Chinese Medicine, Tianjin, China
- 5Department of Pharmacy, Tianjin First Central Hospital, Tianjin, China
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Background: Pediatric primary cardiomyopathies (PCMs) are rare diseases with complex causes and nonspecific treatment. The influence of electrolytes and amino acids (AAs) on cardiomyopathies has not been extensively studied. This study aimed to explore clinical characteristics and the usage of electrolytes and AAs in children with PCMs. Methods: Children diagnosed with PCMs who had genetic test reports were included. Relevant information was collected and processed, and clinical characteristics and mutated genes were clarified. Gene databases were searched to explore related electrolytes and AAs in the treatment of PCMs. The effect of calcium was explored in children with DCM. Paired samples T tests and nonparametric Wilcoxon signed-rank tests were performed for comparison between before and after using calcium. Results: In this study, 27 children with gene test results were enrolled to perform gene-related analysis. The median age was 2.5 years old. Mutated genes were collected, including pathogenic, likely pathogenic, uncertain significance, and other mutations. The most frequently mutated genes related to dilated cardiomyopathy (DCM) were TTN, MYH7, NEXN, TNNI3, and SCN5A. In hypertrophic cardiomyopathy (HCM), MYBPC3, MYH7, PRKAG2, RAF1, and RBM20 were prevalent. Calcium and AAs (serine, cysteine, arginine, tyrosine, and alanine) were related to the mutated genes detected in children with PCMs. In addition, 17 children treated with calcium showed significant improvement in heart function. Conclusions: For children with DCM, calcium supplements may be beneficial. AAs, including serine, cysteine, and arginine, could be used for supplementary treatment in children with DCM and HCM.
Keywords: pediatric primary cardiomyopathies, Mutated genes, Calcium, Amino Acids, exploration
Received: 20 May 2025; Accepted: 20 Oct 2025.
Copyright: © 2025 Jiang, Zhang, Deng, Wang, Wang, Chen, Zhu and Liu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Liqin Zhu, 30819327@nankai.edu.cn
Wei Liu, lance1971@163.com
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