Pediatric hypertrophic cardiomyopathy: current diagnostic strategies, genetic insights, and challenges in risk stratification (a literature review)

Background. Pediatric hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death in children and represents a clinically and genetically heterogeneous condition distinct from adult disease. Although advances in adult HCM have informed management strategies, pediatric-specific evidence remains comparatively limited, particularly regarding imaging-based risk assessment and validation of pediatric risk prediction models.

Aim: To assess current diagnostic approaches, genetic insights, and current challenges in risk stratification in pediatric HCM.

Methods. A structured narrative review of studies published from 1997 through early 2025 was conducted using major biomedical databases and guideline references. Priority was given to pediatric cohort studies, population-based registries, contemporary clinical guidelines, and genetic investigations addressing epidemiology, etiologic classification, diagnostic evaluation, and risk prediction.

Key Content and Findings. Recent evidence confirms the predominant role of sarcomeric gene variants beyond infancy, while underscoring the importance of syndromic and metabolic etiologies in early childhood. Advances in electrocardiographic risk markers, multimodal imaging including cardiac magnetic resonance imaging assessment of myocardial fibrosis and next generation genetic testing have enhanced diagnostic precision and family screening. However, phenotypic variability, age-dependent penetrance, and limitations in external validation of pediatric risk prediction tools, including HCM Risk-Kids, continue to challenge individualized management.

Conclusion. Pediatric HCM remains a prognostically complex and biologically diverse disease. Refinement of pediatric-specific risk stratification models, improved integration of imaging and genetic data, and international collaborative research are essential to optimize early diagnosis and personalized care in affected children.

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