Why the study?
Early-onset chronic cardiomyopathy following chemotherapy is relatively uncommon in childhood cancer survivors, and the underlying pathophysiological mechanisms remain poorly understood.
This case highlights potential genetic predispositions (HAS3 and RAC2 SNPs) to early-onset anthracycline-induced cardiomyopathy in pediatric patients, supporting further research into genetic risk-based screening.
Answers are grounded in this paper and cite their sources.
No immediate change to pediatric screening; leaves open validation of HAS3/RAC2 SNPs in anthracycline cardiomyopathy.
Drug-related cardiomyopathy, most notably that caused by anthracyclines, significantly impairs the quality of life in childhood cancer survivors (CCS). In contrast to adults, early-onset chronic cardiomyopathy following chemotherapy is relatively uncommon in CCS, and the underlying pathophysiological mechanisms remain poorly understood. We present a case of a nine-year-old boy who developed severe acute heart failure and subsequent cardioembolic stroke due to early-onset anthracycline-induced cardiotoxicity following treatment for Ewing sarcoma. Whole-exome sequencing revealed two candidate single-nucleotide polymorphisms: HAS3 rs2232228 and RAC2 rs13058338, which may be implicated in the genetic predisposition to anthracycline-related cardiomyopathy. This case highlights the importance of considering early-onset cardiotoxicity in pediatric patients and supports further research into genetic risk-based screening and prevention strategies.
No takes yet. Share an insight, caveat, or question.
Tanaka et al. (2025) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: