CASE REPORT Open Access Development of anthracycline-induced dilated cardiomyopathy due to mutation on LMNA gene in a breast cancer patient: a case report Jock Chichaco Kuruc 1,2 , Armando A. Durant-Archibold 1,3* , Jorge Motta 1,4,5,6 , K. S. Rao 1 , Barry Trachtenberg 7 , Carlos Ramos 3 , Hongyu Wang 8 , David Gorenstein 8 , Fredrik Vannberg 9 and King Jordan 9* Abstract Background: Anthracyclines are highly effective anticancer medication prescribed for the treatment of breast cancer. Nevertheless, the use of anthracyclines as chemotherapeutic agents involves a risk for development of cardiac toxicity which may cause restrictive and dilated cardiomyopathy. Currently, genetic predisposition is not considered as a risk factor for cardiotoxicity associated to the use of anthracyclines. Case presentation: We report the case of a 37-years old Panamanian female patient diagnosed with breast cancer who developed clinical signs of severe heart failure after treatment with doxorubicin. A diagnosis of anthracycline induced cardiomyopathy was made and treatment was initiated accordingly. A whole exome sequencing study performed to the patient showed the presence of a missense mutation in LMNA gene, which codifies for lamin A/C. Our results points to a correlation between the LMNA variant and the anthracycline cardiotoxicity developed by the woman. Improvement of the clinical symptoms and the left ventricle ejection fraction was observed after proper treatment. Conclusions: This case report suggests for the first time a potential genetic predisposition for anthracyclines induced cardiomyopathy in patients with mutations in LMNA gene. Perhaps chemotherapies accelerate or deliver the “second-hit” in the development of DCM in patients with genetic mutations. More data is needed to understand the contribution of LMNA variants that predispose to DCM in patients receiving cardiotoxic therapies. Keywords: Cardiotoxicity, Dilated cardiomyopathy, Antrhacyclines, LMNA gene, Breast cancer Background Anthracyclines, such as doxorubicin and epirubicin, are highly effective and frequently used antineoplastic drugs pre- scribed for a variety of malignancies, including breast cancer [1, 2]. These drugs inhibit the enzyme topoisomerase II, lead- ing to disruption in DNA replication and transcription, which in turn impedes multiplication of cancer cells. Furthermore, they promote the production of Reactive Oxygen Species (ROS) which damage proteins, DNA and cell membranes of the fastest-dividing human cancer cells [2]. Anthracycline-based chemotherapy for the treatment of breast cancer is very effective, reducing the annual mortality in women with breast cancer by 20–38%; nevertheless, the increased risk of cardiotoxicity in patients from anthracycline use has been very well described and analyzed in the medical literature [1–3]. The use of anthracyclines as chemothera- peutic agents involves an evident risk for development of cardiac toxicity generating restrictive and dilated cardiomy- opathy resulting in congestive heart failure in approximately 16–20% of the treated patients [4]. The current assumptions indicate that anthracycline-induced cardiomyopathy is the result of complex multifactorial processes affecting cardio- myocytes such as inhibition of protein and nucleic acid © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. * Correspondence: armando.durant@gmail.com; adurant@indicasat.org.pa; king.jordan@biology.gatech.edu 1 Molecular Medicine Research Unit, Center for Biodiversity and Drug Discovery, Institute of Scientific Research and High Technology Services (INDICASAT- AIP), Panama City, Panama 9 School of Biological Sciences, Georgia Institute of Technology, Atlanta, GA, USA Full list of author information is available at the end of the article Kuruc et al. BMC Cardiovascular Disorders (2019) 19:169 https://doi.org/10.1186/s12872-019-1155-7