Clinical manifestations, genetic profiles, and sudden cardiac arrest in pediatric hypertrophic cardiomyopathy: Challenges of risk prediction for initial sudden cardiac arrest presentations

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Background: Sudden cardiac arrest (SCA) is a leading cause of death in pediatric hypertrophic cardiomyopathy (HCM). Objective: The study sought to analyze the clinical and genetic characteristics of pediatric HCM and assess the applicability of current SCA risk prediction models. Methods: We enrolled individuals diagnosed as HCM before 20 years of age, between 2000 and 2020, excluding those secondary to hemodynamic causes and those associated with genetic syndromes other than RASopathies. Results: scores compared with those who experienced SCA later during follow-up. Whole exome sequencing in 55 patients identified genetic pathogenic variants in 80% of cases. The most prevalent pathogenic variants were MYH7 (40%) and MYBPC3 (24%) within the sarcomere gene group, and RAF1 (36.8%) and PTPN11 (21.1%) among RASopathies. SCA events occurred mostly between 10 and 18 years of age. The SCA event-free survival rate was 84.2% by 10 years after diagnosis and associated with sarcomere gene pathogenic variants (odds ratio 10.2). Excluding the 6 patients presented as SCA initially, both the HCM Risk-Kids and PRIMaCY (precision medicine in cardiomyopathy) genetic scoring system exhibited strong predictive power for SCA during follow-up. Conclusion: In pediatric HCM, SCA is notably associated with sarcomere gene pathogenic variants. While newer risk scoring systems, if incorporated with genetic information, effectively predict SCA in this Asia cohort, a challenge remains: nearly half of SCA cases present as the initial clinical manifestation.

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