Evidence map›Paper›PMID 40734749›Full record

ArticleHeart rhythm O22025

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

Shuenn-Nan Chiu, Jyh-Ming Jimmy Juang, Wei-Chieh Tseng, Ni-Chung Lee, Chun-Wei Lu, Ming-Tai Lin, Chun-An Chen, Jou-Kou Wang, Wen-Pin Chen, Mei-Hwan Wu

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Article in Heart rhythm O2, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

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2citing papers in PubMed
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3 · Its place in the literature

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2 citing papers in PubMed.

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4 · The record

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5 · Who and what money

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10 authors.

Shuenn-Nan ChiuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Jyh-Ming Jimmy JuangCenter of Genetic Heart Disease, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan.
Wei-Chieh TsengDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Ni-Chung LeeCenter of Genetic Heart Disease, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan.
Chun-Wei LuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Ming-Tai LinDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Chun-An ChenDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Jou-Kou WangDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
Wen-Pin ChenInstitute of Pharmacology, National Taiwan University Hospital, National Taiwan University, Taipei, Taiwan.
Mei-Hwan WuDepartment of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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: Among 91 patients (31 female, 60 male), SCA occurred in 13 (14.3%) patients, with 6 (46%) cases presenting as the initial symptom. These 6 patients were older and had lower left ventricular mass 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.

Indexed as

Genetic variantHypertrophic cardiomyopathyPediatricRASopathySarcomereSudden cardiac arrest

Identifiers

PMID40734749
PMCPMC12302196

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