Genetic predisposition in chemotherapy‐induced cardiomyopathy in a 65‐year‐old female with metastatic breast cancer

Abstract

Abstract The prevention and management of cancer therapy‐related cardiac dysfunction (CTRCD) have become increasingly important. Recent studies have revealed the crucial role of genetics in determining the susceptibility to development of CTRCD. We present a case of a 65‐year‐old woman with breast cancer who developed recurrent CTRCD following low‐dose chemotherapy, despite lacking conventional cardiovascular risk factors. Her medical history included anthracycline‐associated cardiomyopathy, and her condition deteriorated significantly after treatment with HER2‐targeted therapies. Through the use of multimodal imaging, we detected severe left ventricular systolic dysfunction. Further investigation with genetic testing revealed a likely pathogenic variant in the TNNT2 gene, suggesting a genetic predisposition to CTRCD. This case implies the potential role of genetic screening in identifying patients at risk for CTRCD and advocates for personalized chemotherapy and cardioprotective strategies.

Keywords

• Cancer
• Cardiomyopathy
• Cardio‐oncology
• Chemotherapy
• Genetics