Key result
Targeted NGS panels detect pathogenic variants in ~66% of children with HCM.
Why the study?
Myocardial hypertrophy in children involves heterogeneous diseases with many non-sarcomeric causes, necessitating comparison of targeted NGS panels for genetic diagnosis of pediatric HCM.
Does the size of targeted NGS panels affect the diagnostic informativeness for hypertrophic cardiomyopathy in children?
Observational (n=53)
Does the size of targeted NGS panels affect the diagnostic informativeness for hypertrophic cardiomyopathy in children?
Extended cardio panels are advisable for genetic diagnosis of HCM in children with onset in the first year of life, while smaller targeted panels are sufficient for older onset.
Supports genetic testing in pediatric HCM; leaves open whether NGS panel size affects yield by onset age.
Introduction. Hypertrophic cardiomyopathy (HCM) is the most common form of cardiomyopathy (CMP). Myocardial hypertrophy in children is associated with a large heterogeneous group of diseases with a high representation of non-sarcomeric causes. Purpose. The study compares diagnostic information from targeted next-generation sequencing (NGS) panels with different gene sets for HCM in children. Materials and methods. A molecular genetic study was conducted using two targeted panels (172 and 39 genes), followed by an assessment of their effectiveness. Results. The study included 53 children with HCM, the median age of which was 10 ± 3.5; 14.0 years. 13 children were examined using a large cardiac panel containing 172 genes. The remaining 40 patients were examined using a targeted panel for HCM containing 39 genes, while in 10 cases (25.0 %) genetic diagnostics was uninformative. Pathogenic and likely pathogenic variants in various genes were detected in 35 (66.0 %) patients. The informativeness of genetic diagnostics in the group of children under one year old was 60.7 %, in the group with onset at the age of over one year — 69.2 %. Conclusion. It is advisable to use an extended cardio panel for NGS for the purpose of genetic diagnosis of HCM in patients with the onset of the disease in the first year of life and small target panels for HCM in patients with the onset at an older age.
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Fetisova et al. (2025) conducted an observational in Hypertrophic cardiomyopathy (HCM) (n=53). Large cardiac panel (172 genes) vs. Targeted panel for HCM (39 genes) was evaluated on Detection of pathogenic and likely pathogenic variants. Targeted next-generation sequencing panels detected pathogenic or likely pathogenic variants in 66.0% of children with hypertrophic cardiomyopathy.
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