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Published on: May 16, 2020
Potential Influence of Duchenne Muscular Dystrophy Carrier on Breast Cancer Treatment-Related Cardiomyopathy: A Case
Shivali Desai1, Patrick Dillon2
1Department of Medicine, University of Virginia Health, Charlottesville, VA, USA.
Introduction:
Carriers of Duchenne muscular dystrophy (DMD) and other inherited myopathies are at risk of cardiomyopathy, and HER2-targeted therapies for breast cancer are also associated with cardiotoxicity. The coexistence of these conditions presents a novel clinical challenge. Standard baseline cardiac evaluations prior to HER2-targeted therapy do not routinely detect inherited cardiomyopathies, and genetic risk is not currently incorporated into pretreatment assessment.
Case Report:
We report the case of a woman in her 30s with HER2-positive breast cancer with baseline borderline low global longitudinal strain who was incidentally identified as a carrier of a DMD gene mutation after her son was diagnosed with DMD and developed an asymptomatic decline in left ventricular ejection fraction during treatment.
Conclusion:
This case highlights the potential role of increased cardiac surveillance and consideration of cardioprotective medications and genetic screening in patients with baseline abnormal echocardiograms prior to receiving cardiotoxic cancer therapies.
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