Comparative informativeness of various targeted panels in the genetic diagnosis of hypertrophic cardiomyopathy in children
Year: 2025
Type: article
Study design: Observational Study
Abstract: 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.
Source: Translational Medicine
Authors: S. Г. Fetisova, O. V. Melnik, Y. V. Fomicheva, P. S. Sokolnikova, V. G. Abbyasova, O. V. Fedorova, A. A. Kostareva, E. S. Vasichkina
Institution: Federal Almazov North-West Medical Research Centre
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4410174923