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Evaluating anthracycline cardiotoxicity associated single nucleotide polymorphisms in a paediatric cohort with early

Timothy N McOwan1,2, Lauren A Craig1, Anne Tripdayonis1

  • 11Murdoch Children's Research Institute, The Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia.

Cardio-Oncology (London, England)
|June 2, 2020
PubMed
Abstract

Insights

Previously identified single nucleotide polymorphisms (SNPs) linked to anthracycline cardiotoxicity were found in children with early-onset heart damage. However, these SNPs did not correlate with disease severity or onset time, requiring further validation.

Area of Science:

  • Cardiology
  • Genetics
  • Oncology

Background:

  • Anthracyclines are crucial chemotherapy agents but can cause cardiotoxicity.
  • Genetic factors influence susceptibility to anthracycline-induced cardiomyopathy, particularly in pediatric patients.
  • Single nucleotide polymorphisms (SNPs) have been associated with this adverse effect.

Purpose of the Study:

  • To investigate the presence of missense coding SNPs in children experiencing early-onset chemotherapy-related cardiomyopathy.
  • To evaluate the correlation between SNP load and the severity or onset of cardiac dysfunction.

Main Methods:

  • Screened a cohort of children with early-onset cardiomyopathy for specific SNPs.
  • Utilized Sanger sequencing of PCR amplicons from genomic DNA to identify SNP presence.

Main Results:

  • All previously identified SNPs were present in the patient cohort.
  • No correlation was found between the number of missense variants and disease severity.
  • Carrying a high load of missense variants did not correlate with earlier onset of cardiac disease.

Conclusions:

  • Previously identified missense SNPs are present in pediatric patients with anthracycline-induced cardiotoxicity.
  • These SNPs require further replication and functional studies before clinical use for risk assessment.
  • The current study highlights the need for more research into genetic markers for cardiotoxicity.
Keywords:
Anthracycline induced cardiomyopathyGenetic variantsPaediatric cancers

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