Acute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM.

IF 1.5 4区 医学 Q3 CARDIAC & CARDIOVASCULAR SYSTEMS
Hui Shi, Ruizhen Chen, Minghui Li, Junbo Ge
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引用次数: 0

Abstract

Background: Cardiac dysfunction, including arrhythmias, may be one of the main clinical manifestations of Becker muscular dystrophy (BMD). Amiodarone is widely used to treat arrhythmia. However, multi-systemic toxicity caused by amiodarone, especially hepatotoxicity, should not be neglected. Here, we introduce a novel case of multi-systemic amiodarone toxicity involving the liver, renal and coagulation in BDM patient with ABCB4 gene mutation.

Case presentation: We present a case of a 16-year-old boy admitted with heart failure and atrial fibrillation (AF). He was diagnosed with Becker muscular dystrophy (BMD) and gene testing showed comorbid mutations in gene DMD, ABCB4 and DSC2. Amiodarone was prescribed to control the paroxysmal atrial fibrillation intravenously. However, his liver enzyme levels were sharply elevated, along with cardiac shock, renal failure and coagulation disorders. After bedside continuous renal replacement therapy, the patient's liver function and clinical status rehabilitated.

Conclusions: ABCB4 gene mutation might be involved in amiodarone-induced hepatotoxicity. Studies in a cohort might help to prove this hypothesis in the future.

一名患有失代偿性心力衰竭和 ABCB4 基因突变的贝克尔肌肉萎缩症患者因静脉注射胺碘酮而出现急性肝中毒:使用更新的 RUCAM 进行因果关系评估。
背景:心脏功能障碍(包括心律失常)可能是贝克尔肌肉营养不良症(BMD)的主要临床表现之一。胺碘酮被广泛用于治疗心律失常。然而,胺碘酮引起的多系统毒性,尤其是肝毒性不容忽视。在此,我们将介绍一例新的多系统胺碘酮毒性病例,该病例发生在 ABCB4 基因突变的 BDM 患者身上,涉及肝脏、肾脏和凝血系统:我们介绍了一例因心力衰竭和心房颤动(AF)入院的 16 岁男孩。他被诊断为贝克型肌营养不良症(BMD),基因检测显示他的DMD、ABCB4和DSC2基因存在合并突变。为控制阵发性心房颤动,医生给他开了胺碘酮静脉注射。然而,他的肝酶水平急剧升高,并伴有心源性休克、肾功能衰竭和凝血功能障碍。经过床旁持续肾脏替代治疗后,患者的肝功能和临床状态得以恢复:结论:ABCB4 基因突变可能与胺碘酮诱导的肝毒性有关。结论:ABCB4 基因突变可能与胺碘酮诱导的肝毒性有关,未来的队列研究可能有助于证明这一假设。
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来源期刊
Journal of Cardiothoracic Surgery
Journal of Cardiothoracic Surgery 医学-心血管系统
CiteScore
2.50
自引率
6.20%
发文量
286
审稿时长
4-8 weeks
期刊介绍: Journal of Cardiothoracic Surgery is an open access journal that encompasses all aspects of research in the field of Cardiology, and Cardiothoracic and Vascular Surgery. The journal publishes original scientific research documenting clinical and experimental advances in cardiac, vascular and thoracic surgery, and related fields. Topics of interest include surgical techniques, survival rates, surgical complications and their outcomes; along with basic sciences, pediatric conditions, transplantations and clinical trials. Journal of Cardiothoracic Surgery is of interest to cardiothoracic and vascular surgeons, cardiothoracic anaesthesiologists, cardiologists, chest physicians, and allied health professionals.
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