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Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2021-07-19 , DOI: 10.1002/jimd.12418
Kevin Chevalier 1, 2 , Nadia Benyounes 3 , Michaël Alexandre Obadia 1, 2 , Clélie Van Der Vynckt 3 , Erwan Morvan 1, 2 , Thierry Tibi 3 , Aurélia Poujois 1, 2
Affiliation  

Wilson disease (WD) is a rare genetic condition that results from a build-up of copper in the body. It requires life-long treatment and is mainly characterized by hepatic and neurological features. Copper accumulation has been reported to be related to the occurrence of heart disease, although little is known regarding this association. We have conducted a systematic review of the literature to document the association between WD and cardiac involvement. Thirty-two articles were retained. We also described three cases of sudden death. Cardiac manifestations in WD include cardiomyopathy (mainly left ventricular (LV) remodeling, hypertrophy, and LV diastolic dysfunction, and less frequently LV systolic dysfunction), increased levels of troponin, and/or brain natriuretic peptide, electrocardiogram (ECG) abnormalities, and rhythm or conduction abnormalities, which can be life-threatening. Dysautonomia has also been reported. The mechanism of cardiac damage in WD has not been elucidated. It may be the result of copper accumulation in the heart, and/or it could be due to a toxic effect of copper, resulting in the release of free oxygen radicals. Patients with signs and/or symptoms of cardiac involvement or who have cardiovascular risk factors should be examined by a cardiologist in addition to being assessed by their interdisciplinary treating team. Furthermore, ECG, cardiac biomarkers, echocardiography, and 24-hours or more of Holter monitoring at the diagnosis and/or during the follow-up of patients with WD need to be evaluated. Cardiac magnetic resonance imaging, although not always available, could also be a useful diagnostic tool, allowing assessment of the risk of ventricular arrhythmias and further guidance of the cardiac workup.

中文翻译:

威尔逊病的心脏受累:文献回顾和三例猝死病例的描述

威尔逊病 (WD) 是一种罕见的遗传病,由体内铜的积聚引起。它需要终生治疗,主要表现为肝脏和神经系统特征。据报道,铜的积累与心脏病的发生有关,尽管对此关联知之甚少。我们对文献进行了系统回顾,以记录 WD 与心脏受累之间的关联。保留了三十二篇。我们还描述了三起猝死案例。WD 的心脏表现包括心肌病(主要是左心室 (LV) 重塑、肥大和 LV 舒张功能障碍,以及较少见的 LV 收缩功能障碍)、肌钙蛋白和/或脑利钠肽水平升高、心电图 (ECG) 异常、节律或传导异常,可能危及生命。自主神经功能障碍也有报道。WD 中心脏损害的机制尚未阐明。这可能是铜在心脏中积累的结果,和/或可能是由于铜的毒性作用,导致释放自由基。有心脏受累体征和/或症状或有心血管危险因素的患者除了由其跨学科治疗团队进行评估外,还应由心脏病专家进行检查。此外,需要评估心电图、心脏生物标志物、超声心动图和 24 小时或更长时间的动态心电图监测在 WD 患者的诊断和/或随访期间。心脏磁共振成像虽然并不总是可用,但也可能是一种有用的诊断工具,
更新日期:2021-09-08
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