Genetic predisposition in chemotherapy-induced cardiomyopathy in a 65-year-old female with metastatic breast cancer.
So-Young LeeHoon Seok KimMi Hyang JungSuyon ChangMyungshin KimJong-Chan YounWoo-Baek ChungHae Ok JungPublished in: ESC heart failure (2024)
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.
Keyphrases
- left ventricular
- chemotherapy induced
- cardiovascular risk factors
- heart failure
- genome wide
- low dose
- copy number
- metastatic breast cancer
- cancer therapy
- end stage renal disease
- ejection fraction
- oxidative stress
- chronic kidney disease
- single cell
- healthcare
- blood pressure
- locally advanced
- metabolic syndrome
- hypertrophic cardiomyopathy
- drug delivery
- newly diagnosed
- acute myocardial infarction
- cardiac resynchronization therapy
- prognostic factors
- high dose
- cardiovascular disease
- high resolution
- mitral valve
- pain management
- left atrial
- peritoneal dialysis
- coronary artery disease
- young adults
- early onset
- patient reported outcomes
- risk assessment
- transcription factor
- human health
- aortic valve