Moghadasi Setareh, Fijn Rienke, Beeres Saskia L M A, Bikker Hennie, Jongbloed Jan D H, Josephus Jitta Djike, Kroep Judith R, Lekanne Deprez Ronald H, Vos Yvonne J, de Vreede Mariëlle J M, Antoni M Louisa, Barge-Schaapveld Daniela Q C M
Department of Clinical Genetics, LUMC, Postbus 9600 2300 RC Leiden, The Netherlands.
Department of Cardiology, LUMC, Leiden, The Netherlands.
Eur Heart J Case Rep. 2021 Sep 15;5(10):ytab333. doi: 10.1093/ehjcr/ytab333. eCollection 2021 Oct.
Cardiotoxicity presenting as cardiomyopathy is a common side effect in cancer treatment especially with anthracyclines. The role of genetic predisposition is still being investigated.
Four unrelated patients with a familial burden for cardiac disease, who developed cardiomyopathy after anthracycline treatment are presented. Case 1 received chemotherapy for breast cancer and developed a dilated left ventricle just after treatment. Her father had died unexpectedly while being screened for heart transplant. Case 2 was known with a family history of sudden cardiac death prior to her breast cancer diagnosis. She received anthracycline-containing chemotherapy treatment twice in 5 years due to recurrence of breast cancer. During that period, two brothers developed a cardiomyopathy. Eighteen years later, a genetic predisposition for cardiomyopathy was ascertained and at screening an asymptomatic non-ischaemic cardiomyopathy was established. Case 3 was diagnosed with a dilated cardiomyopathy 1 year after chemotherapy treatment for breast cancer. Her mother had developed a dilated cardiomyopathy several years before. Case 4 received chemotherapy treatment for Non-Hodgkin's lymphoma and developed dilated cardiomyopathy 1 year later. His brother died from congestive heart failure which he developed after chemotherapy for Non-Hodgkin's lymphoma and a grandmother had died suddenly during child delivery. In all four cases, genetic screening showed (likely) pathogenic variants in cardiomyopathy-associated genes.
Current guidelines recommend cardiac evaluation in cancer patients receiving chemotherapy based on the presence of cardiovascular risk factors at the start of treatment. This series emphasizes the importance of including a thorough family history in this process.
表现为心肌病的心脏毒性是癌症治疗中常见的副作用,尤其是在使用蒽环类药物时。遗传易感性的作用仍在研究中。
介绍了4例有家族性心脏病负担、在接受蒽环类药物治疗后发生心肌病的无关患者。病例1因乳腺癌接受化疗,治疗后不久出现左心室扩张。她的父亲在接受心脏移植筛查时意外死亡。病例2在乳腺癌诊断前就有心脏性猝死家族史。由于乳腺癌复发,她在5年内接受了两次含蒽环类药物的化疗。在此期间,她的两个兄弟患了心肌病。18年后,确定了心肌病的遗传易感性,筛查时诊断为无症状非缺血性心肌病。病例3在乳腺癌化疗治疗1年后被诊断为扩张型心肌病。她的母亲几年前患了扩张型心肌病。病例4因非霍奇金淋巴瘤接受化疗,1年后发展为扩张型心肌病。他的兄弟死于充血性心力衰竭,是在接受非霍奇金淋巴瘤化疗后患上的,他的一位祖母在分娩时突然死亡。在所有4例病例中,基因筛查均显示心肌病相关基因存在(可能的)致病变异。
目前的指南建议,根据治疗开始时是否存在心血管危险因素,对接受化疗的癌症患者进行心脏评估。本系列病例强调了在此过程中纳入详尽家族史的重要性。