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Disclosing an In-Frame Deletion of the Titin Gene as the Possible Predisposing Factor of Anthracycline-Induced

Yu-Wei Chang1,2, Hui-Ying Weng3, Shih-Feng Tsai4

  • 1Department of Laboratory, Taitung Hospital, Ministry of Health and Welfare, Taitung 95043, Taiwan.

International Journal of Molecular Sciences
|August 26, 2022
PubMed

Insights

A genetic defect in the titin gene may predispose individuals to anthracycline-induced cardiomyopathy. This inherited condition led to acute heart failure in a young patient with acute myeloid leukemia undergoing chemotherapy.

Area of Science:

  • Cardiology
  • Oncology
  • Genetics

Background:

  • Anthracycline chemotherapy is vital for treating acute myeloid leukemia but can cause cardiotoxicity.
  • Identifying genetic factors for anthracycline cardiotoxicity is crucial for personalized treatment strategies.

Observation:

  • A young male patient developed acute congestive heart failure after two courses of anthracycline chemotherapy.
  • The patient had acute myeloid leukemia and was treated with a standard dose of anthracycline-based chemotherapy.

Findings:

  • Genetic analysis identified an in-frame deletion in the titin gene as a likely cause of the patient's cardiomyopathy.
  • This titin gene defect was inherited from the patient's mother.
  • The identified genetic defect was absent in control groups of cancer patients without cardiotoxicity and healthy individuals.

Implications:

  • This finding suggests that titin gene variants may confer susceptibility to anthracycline-induced cardiomyopathy.
  • Genetic screening for titin gene defects could aid in identifying at-risk patients before anthracycline therapy.
  • Further research is warranted to validate titin gene variants as predictive biomarkers for cardiotoxicity.
Keywords:
anthracycline-induced cardiotoxicitychemotherapy-related cardiomyopathytitin

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