Key result
Heart failure functional class and biomarkers increased prognostic discrimination for death or transplant from C-index 0.527 to 0.842, whereas P/LP variants did not significantly alter survival (P=0.058).
Why the study?
The relationship between molecular findings, clinical disease severity, and HF outcomes in pediatric cardiomyopathy remains uncertain.
Does genetic testing, clinical heart failure severity, biomarker assessment, and multimodality imaging predict transplant-free survival (death or heart transplantation) in children with primary cardiomyopathy?
Cohort (n=235)
No
Does genetic testing, clinical heart failure severity, biomarker assessment, and multimodality imaging predict transplant-free survival (death or heart transplantation) in children with primary cardiomyopathy?
In a prospective South Indian pediatric cardiomyopathy cohort, clinical heart failure functional class and biomarkers (NT-proBNP and creatinine) provided the strongest prognostic discrimination for death or heart transplantation, whereas genetic testing and multimodality imaging offered limited incremental prognostic value despite high diagnostic yield.
Answers are grounded in this paper and cite their sources.
HF class and biomarkers improve outcome prediction in pediatric cardiomyopathy; leaves open whether pathogenic variants add independent prognostic value.
Background The relationship between molecular findings, clinical disease severity, and heart failure (HF) outcomes in pediatric cardiomyopathy remains uncertain. Objectives To evaluate genetic diagnostic yield and the relative associations of clinical severity, biomarkers, and multimodality imaging with death or heart transplantation in children with cardiomyopathy. Methods This prospective single-center study included 235 children younger than 18 years at a South Indian referral center. Genetic testing, HF functional class, biomarkers, echocardiography, cardiac magnetic resonance (CMR), and longitudinal outcomes were evaluated. Transplant-free survival was assessed using Kaplan–Meier analysis and Cox regression. Hierarchical models evaluated incremental prognostic discrimination using Harrell's C-index. Results Genetic testing was performed in 112 children (47.7%), of whom 54 (48.2%) had reported pathogenic or likely pathogenic (P/LP) variants. During a median follow-up of 15 months, 63 children (26.8%) died or underwent heart transplantation. Transplant-free survival did not differ significantly between P/LP-positive and genetic-negative groups (log-rank P = 0.058). Reduced ventricular function and late gadolinium enhancement were associated with adverse outcomes in univariable analyses. Among complete cases, the apparent C-index increased from 0.527 for demographics and cardiomyopathy phenotype to 0.813 after adding HF functional class and 0.842 after biomarkers, with limited additional discrimination from imaging measures. Conclusions Genetic testing demonstrated substantial laboratory-reported P/LP yield, although its effects on clinical management, family screening, and costs were not evaluated. HF functional severity and biomarkers provided the greatest apparent prognostic discrimination for death or transplantation, supporting an integrated clinical approach to pediatric cardiomyopathy assessment.
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Raj et al. (2026) conducted a cohort in Pediatric primary cardiomyopathy (n=235). Pathogenic or likely pathogenic (P/LP) genetic variant status vs. Negative genetic test result was evaluated on Transplant-free survival (first occurrence of all-cause death or heart transplantation) (p=0.058). Heart failure functional class and biomarkers increased prognostic discrimination for death or transplant from C-index 0.527 to 0.842, whereas P/LP variants did not significantly alter survival (P=0.058).
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