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
- genome wide
- heart failure
- low dose
- metastatic breast cancer
- copy number
- cancer therapy
- end stage renal disease
- chronic kidney disease
- blood pressure
- cardiovascular disease
- single cell
- oxidative stress
- newly diagnosed
- prognostic factors
- locally advanced
- hypertrophic cardiomyopathy
- healthcare
- acute myocardial infarction
- peritoneal dialysis
- drug delivery
- dna methylation
- metabolic syndrome
- cardiac resynchronization therapy
- high dose
- aortic stenosis
- early onset
- mass spectrometry
- radiation therapy
- type diabetes
- chronic pain
- coronary artery disease
- rectal cancer
- risk assessment
- climate change