Systemic effects of altered serum copper processing in Wilson Disease (WD) might induce myocardial copper deposition and consequently myocardial dysfunction and structural remodeling. This study sought to investigate the prevalence, manifestation and predictors of myocardial tissue abnormalities in WD patients. We prospectively enrolled WD patients and an age-matched group of healthy individuals. We applied cardiovascular magnetic resonance (CMR) to analyze myocardial function, strain, and tissue characteristics. A subgroup analysis of WD patients with predominant neurological (WD-neuro+) or hepatic manifestation only (WD-neuro−) was performed. Seventy-six patients (37 years (27–49), 47% women) with known WD and 76 age-matched healthy control subjects were studied. The prevalence of atrial fibrillation in WD patients was 5% and the prevalence of symptomatic heart failure was 2.6%. Compared to healthy controls, patients with WD had a reduced left ventricular global circumferential strain (LV-GCS), and also showed abnormalities consistent with global and regional myocardial fibrosis. WD-neuro+ patients presented with more severe structural remodeling and functional impairment when compared to WD-neuro− patients. In a large cohort, WD was not linked to a distinct cardiac phenotype except CMR indexes of myocardial fibrosis. More research is warranted to assess the prognostic implications of these findings. Trial registration: This trial is registered at the local institutional ethics committee (S-188/2018).

中文翻译：

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威尔逊病对心肌组织和功能的影响：心血管磁共振研究


威尔逊病（WD）中血清铜加工改变的全身效应可能会诱导心肌铜沉积，从而导致心肌功能障碍和结构重塑。本研究旨在调查 WD 患者心肌组织异常的患病率、表现和预测因素。我们前瞻性地招募了 WD 患者和一组年龄匹配的健康个体。我们应用心血管磁共振 (CMR) 来分析心肌功能、应变和组织特征。对具有主要神经系统表现（WD-neuro+）或仅肝脏表现（WD-neuro−）的 WD 患者进行了亚组分析。对 76 名已知 WD 的患者（37 岁（27-49），47% 女性）和 76 名年龄匹配的健康对照受试者进行了研究。 WD 患者心房颤动的患病率为 5%，症状性心力衰竭的患病率为 2.6%。与健康对照相比，WD 患者的左心室整体周向应变 (LV-GCS) 降低，并且还表现出与整体和区域心肌纤维化一致的异常。与 WD-neuro- 患者相比，WD-neuro+ 患者表现出更严重的结构重塑和功能损伤。在一个大型队列中，除心肌纤维化的 CMR 指数外，WD 与独特的心脏表型无关。需要更多的研究来评估这些发现的预后意义。试验注册：该试验在当地机构伦理委员会注册（S-188/2018）。