ArticleJTCVS open2026
The impact of genotype-phenotype on the prognosis of children with hypertrophic cardiomyopathy.
Article in JTCVS open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Objective: To investigate the relationship between different genotypes and clinical phenotypes within a pediatric hypertrophic cardiomyopathy (HCM) population and explore the impact of various genotypes on patient outcomes. Methods: This study involved 82 pediatric HCM patients. A comprehensive review was conducted of echocardiography results, second-generation whole-exome sequencing (WES) findings, and conditions warranting pathologic examination or surgical intervention. Results: WES was performed in 82 children, of whom 65 (79.3%) and pathogenic or likely pathogenic (P/LP) variants. The median patient age was 6.4 years (interquartile range, 3.8- 11.4 years), 45 (54.9%) were male, and 15 (18.3%) had a definitive family history of HCM. The RASopathy group was diagnosed at a significantly younger age compared to the sarcomeric variant HCM group ( Conclusions: Identifying pathogenic genes in children with HCM enables the assessment of genotype-cardiac phenotype relationships and can guide treatment strategy selection and prognosis, particularly for children with RASopathies.
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