Key result
Genotype-positive status in children with dilated cardiomyopathy was associated with a 2.29-fold increased risk of death or cardiac transplantation compared to genotype-negative status.
Why the study?
The genetic spectrum and prognostic significance of genetic testing in Chinese children with dilated cardiomyopathy remain incompletely characterized.
Does genotype-positive status predict a higher risk of death or cardiac transplantation in pediatric patients with dilated cardiomyopathy?
Cohort (n=77)
No
Does genotype-positive status predict a higher risk of death or cardiac transplantation in pediatric patients with dilated cardiomyopathy?
Hazard Ratio: 2.29 (95% CI 1.06–4.94)
Absolute Event Rate: 58.9% vs 35%
p-value: p=0.035
In pediatric dilated cardiomyopathy, genotype-positive status identifies a high-risk subgroup with poorer event-free survival, highlighting the prognostic value of genetic evaluation.
May support genotype-based risk stratification in pediatric dilated cardiomyopathy; leaves open independent prognostic value after adjustment for age and NYHA class.
Dilated cardiomyopathy (DCM) is a rare and genetically heterogeneous disorder that can lead to progressive heart failure in children. Although genetic testing has become increasingly important in the clinical management of pediatric DCM, the genetic spectrum and its prognostic significance in Chinese children remain incompletely characterized. This study aimed to characterize the genetic findings and evaluate their association with clinical outcomes in Chinese children with DCM who underwent genetic testing. We conducted a retrospective study of 77 children with a DCM phenotype who underwent genetic testing at a tertiary center in China. Genetic variants were classified according to the American College of Medical Genetics and Genomics guidelines. Patients were categorized into genotype-positive and genotype-negative groups. Clinical characteristics and event-free survival were compared using Kaplan–Meier analysis and Cox proportional hazards regression. Pathogenic or likely pathogenic variants were identified in 17 patients (22.1%), with FLNC , LMNA , TNNT2 , and TTN being the most frequently implicated genes. Genotype-positive patients had significantly poorer event-free survival than genotype-negative patients ( P = 0.025). In the genotype-positive group, event-free survival rates at 1 month, 1 year, and 3 years were 64.7%, 47.1%, and 35.3%, respectively. In univariable Cox regression analysis, genotype-positive status was associated with a higher risk of death or cardiac transplantation (HR: 2.29, 95% CI: 1.06–4.94; P = 0.035). In multivariable analysis adjusted for age at diagnosis and NYHA functional class, the association did not reach statistical significance (HR: 2.10, 95% CI: 0.97–4.55; P = 0.060). In this retrospective cohort of Chinese children with DCM who underwent genetic testing, genotype-positive patients showed poorer event-free survival than genotype-negative patients. These findings suggest that genetic evaluation may provide useful information for prognostic assessment in pediatric DCM. Not applicable.
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Liu et al. (2026) conducted a cohort in Pediatric Dilated Cardiomyopathy (n=77). Genotype-positive status (pathogenic or likely pathogenic variants) vs. Genotype-negative status (no pathogenic/likely pathogenic variants) was evaluated on Composite of death or cardiac transplantation (HR 2.29, 95% CI 1.06-4.94, p=0.035). Genotype-positive status in children with dilated cardiomyopathy was associated with a 2.29-fold increased risk of death or cardiac transplantation compared to genotype-negative status.
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