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

Author:

Lee So‐Young12,Kim Hoon Seok3,Jung Mi‐Hyang12ORCID,Chang Suyon4,Kim Myungshin3,Youn Jong‐Chan12,Chung Woo‐Baek12,Jung Hae Ok12

Affiliation:

1. Division of Cardiology, Department of Internal Medicine, Seoul St. Mary's Hospital, College of Medicine The Catholic University of Korea Seoul Republic of Korea

2. College of Medicine, Catholic Research Institute for Intractable Cardiovascular Disease The Catholic University of Korea Seoul Republic of Korea

3. Department of Laboratory Medicine, Seoul St. Mary's Hospital, College of Medicine The Catholic University of Korea Seoul Republic of Korea

4. Department of Radiology, Seoul St. Mary's Hospital, College of Medicine The Catholic University of Korea Seoul Republic of Korea

Abstract

AbstractThe 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.

Publisher

Wiley

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1. Docetaxel/Pertuzumab/Trastuzumab;Reactions Weekly;2024-08-24

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