ArticlePediatric research2025
The clinical and genetic spectrum of pediatric hypertrophic cardiomyopathy manifesting before one year of age.
Article in Pediatric research, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Genotype-Phenotype Associations in Pediatric Hypertrophic Cardiomyopathy: A Study From the Pediatric Cardiomyopathy Registry.JACC. Heart failure · 2026Article
- Infantile Hypertrophic cardiomyopathy: steps towards an evidence-based approach to genetic testing.Pediatric research · 2025Article
- Rethinking Childhood-Onset Hypertrophic Cardiomyopathy: A Review of Molecular Mechanisms and Unique Therapy Considerations.Journal of cardiovascular development and disease · 2025Review
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Authors and funding
11 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundHypertrophic cardiomyopathy (HCM) presents a wide range of clinical scenarios depending on the age of manifestation, with a less favorable prognosis in children. The genetic spectrum and clinical causes of HCM diagnosed before one year of age is rarely reported.
methodsWe analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life. Genetic analysis was performed using targeted gene sequencing (39 HCM-related genes), followed by whole-exome sequencing for genotype-negative cases. The genetic data were correlated with clinical characteristics, disease progression, and prognosis.
resultsThe overall genotype-positive rate was 81%, with an equal proportion of sarcomeric (29%) and RAS-related genetic cases (29%). Gestational diabetes in mothers was more frequently observed in children with variants in Z-disc-related genes. Overall, one year-survival rate from all causes was 91.2%, with the best survival outcomes associated with sarcomeric and Z-disk-related gene variants.
conclusionHCM manifesting in children before one year of age showed an approximately equal proportion of sarcomeric and RAS cascade-related cases. A more favorable prognosis was associated with sarcomeric mutations; whereas metabolic gene-related HCM cases were characterized by the highest one-and five-year mortality due to heart failure. IMPACT: We analyzed the genetic causes and genotype-phenotype correlations in 68 children diagnosed with HCM during the first year of life. Patients with sarcomeric mutations demonstrated a more favorable prognosis, whereas metabolic gene-related HCM cases were the highest one- and five-year mortality rates due to HF. We identified several factors associated with unfavorable outcomes, including LV thickness, HF class, elevated troponin, increased NT-proBNP levels, and RV hypertrophy. We proposed several new and previously unreported genes, such as ROBO4 and KMT2D, as potentially causative for infantile HCM. The true role of these genes in this disease requires confirmation.
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