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dc.contributor.authorDurant-Archibold, Armando A
dc.contributor.authorChichaco Kuruc, Jock
dc.contributor.authorMotta, Jorge
dc.contributor.authorRao, KS Jagannatha
dc.contributor.authorTrachtenberg, Barry
dc.contributor.authorRamos, Carlos
dc.contributor.authorWang, Hongyu
dc.contributor.authorGorenstein, David
dc.contributor.authorVannberg, Fredrik
dc.contributor.authorJordan, King
dc.date.accessioned2020-06-28T00:09:33Z
dc.date.available2020-06-28T00:09:33Z
dc.date.issued2019-07-16
dc.identifier.otherhttps://doi.org/10.1186/s12872-019-1155-7
dc.identifier.urihttp://repositorio-indicasat.org.pa/handle/123456789/130
dc.descriptionBackground 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.en_US
dc.description.abstractBackground 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.en_US
dc.language.isoenen_US
dc.subjectCardiotoxicityen_US
dc.subjectDilated cardiomyopathyen_US
dc.subjectAntrhacyclinesen_US
dc.subjectLMNA geneen_US
dc.subjectBreast canceren_US
dc.titleDevelopment of anthracycline-induced dilated cardiomyopathy due to mutation on LMNA gene in a breast cancer patient: a case reporten_US
dc.typeArticleen_US


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