Study of New Biomarkers as Potential Predictors in Pediatric Dilated Cardiomyopathy

Background: Dilated cardiomyopathy (DCM) poses a significant health risk in pediatric populations, yet its pathophysiological mechanisms remain unclear. This study aims to explore new biomarkers as potential predictors in pDCM. Methods: A total of 84 pediatric patients diagnosed with dilated cardiomyopathy (DCM) and 34 age-matched healthy controls were prospectively recruited. Inclusion criteria were based on clinical diagnosis, echocardiographic findings, and relevant exclusion criteria for other cardiac or systemic conditions. Serum levels of total carnitine, procollagen type III N-terminal propeptide (PIIINP), cystatin C (Cys-C), β2-microglobulin (β2M), and haptoglobin (Hp) were quantitatively assessed using enzyme-linked immunosorbent assay (ELISA). Expression of acylcarnitine was assessed via qRT-PCR. Results: There were significantly higher plasma levels of total carnitine (p=0.001), PIIINP (p=0.016), Cys-C (p=0.001), β2M (p=0.009), and haptoglobin (p=0.001) in pDCM compared to matched controls. Total carnitine, PIIINP and β2M at cut-off points 65 umol/ml &3 & 2 mg/L showed 73&79% & 75% sensitivity and 91& 56% & 81% specificity respectively for predicting risk of pDCM. Haptoglobin at cutoff point 164 mg/L has highest specificity (100%) but with low sensitivity 56%). Combined β2M, PIIINP, and total carnitine demonstrated the best accuracy (83.5%) with 75% sensitivity, 92% specificity, 90% PPV, and 79% NPV for the presence of pDCM. A significant upregulation of the acylcarnitine expression gene was also observed in the DCM group compared to controls. Conclusion: Acylcarnitine, PIIINP, Cys-C, β2M and heptoglobin are potential emerging predictors for pDCM and might have a pathogenic role in pDCM with mechanistic associations.

Authors

Publication Details

Journal
Saudi Journal of Medicine
Published
2025-08-13
DOI
https://doi.org/10.36348/sjm.2025.v10i08.004
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
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article

Study of New Biomarkers as Potential Predictors in Pediatric Dilated Cardiomyopathy

Mohamed Elnaggar, Marwan S. Mahmoud, Amr Ashry, Mohammed Mahmoud Mostafa et al.
Saudi Journal of Medicine
Cardiomyopathy and Myosin Studies
article

Study of New Biomarkers as Potential Predictors in Pediatric Dilated Cardiomyopathy

Mohamed Elnaggar, Marwan S. Mahmoud, Amr Ashry, Mohammed Mahmoud Mostafa, Reham I. El‐Mahdy, Naglaa K. Idriss, Sally A. Sayed, Marwa A. Gaber, Asmaa Ismail, AD Blann, Duaa M Raafat
article en

Abstract

Background: Dilated cardiomyopathy (DCM) poses a significant health risk in pediatric populations, yet its pathophysiological mechanisms remain unclear. This study aims to explore new biomarkers as potential predictors in pDCM. Methods: A total of 84 pediatric patients diagnosed with dilated cardiomyopathy (DCM) and 34 age-matched healthy controls were prospectively recruited. Inclusion criteria were based on clinical diagnosis, echocardiographic findings, and relevant exclusion criteria for other cardiac or systemic conditions. Serum levels of total carnitine, procollagen type III N-terminal propeptide (PIIINP), cystatin C (Cys-C), β2-microglobulin (β2M), and haptoglobin (Hp) were quantitatively assessed using enzyme-linked immunosorbent assay (ELISA). Expression of acylcarnitine was assessed via qRT-PCR. Results: There were significantly higher plasma levels of total carnitine (p=0.001), PIIINP (p=0.016), Cys-C (p=0.001), β2M (p=0.009), and haptoglobin (p=0.001) in pDCM compared to matched controls. Total carnitine, PIIINP and β2M at cut-off points 65 umol/ml &3 & 2 mg/L showed 73&79% & 75% sensitivity and 91& 56% & 81% specificity respectively for predicting risk of pDCM. Haptoglobin at cutoff point 164 mg/L has highest specificity (100%) but with low sensitivity 56%). Combined β2M, PIIINP, and total carnitine demonstrated the best accuracy (83.5%) with 75% sensitivity, 92% specificity, 90% PPV, and 79% NPV for the presence of pDCM. A significant upregulation of the acylcarnitine expression gene was also observed in the DCM group compared to controls. Conclusion: Acylcarnitine, PIIINP, Cys-C, β2M and heptoglobin are potential emerging predictors for pDCM and might have a pathogenic role in pDCM with mechanistic associations.

Saudi Journal of MedicineVol. 10(08)
Openalex Percentile: Top 66%
Cardiomyopathy and Myosin Studies
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