Wilson disease (WD) is a rare autosomal recessive disease that causes impaired copper excretion, mainly manifestedashepatic and/or neuropsychiatric symptoms, but diversifies with the varying affected organs and severity of the disease. The accumulation of copper in various organs and systems throughout the bodyleads to other (usually milder) clinical symptoms such as Kayser-fleischer ring (K-F), hemolytic disease, impaired renal function, abnormal bone metabolism, myocarditis, arrhythmias, other organ and systemic damage. It has been recently found that WD may result in varying degrees of cardiac damage and even fatal cardiac disorder inextensive studies. Clinical examination of the cardiovascular system has not been included in the routine testing of WD patients. Therefore, early attention and intervention of subclinical cardiac disease in WD patients are of great significance for the treatment and prognosis.

To observe the dynamic changes in cardiac structure and function in WD patients based on real-time three-dimensional transesophageal echocardiography (RT-3DE), electrocardiogram (ECG) and serological indicators such as myocardial injury markers, so as to provide objective imaging and serological basis for the assessment of early cardiac involvement in WD and facilitating timely intervention in WD patients with early subclinical cardiac damage.

From October 2021 to October 2022, 60 patients with WD admitted to the neurological department of the First Affiliated Hospital of Anhui University of Traditional Chinese Medicine were selected as the WD group, and 60 healthy physical examiners were selected as the control group during the same time. The included WD patients were divided into the neurologic-type (mainly manifested as neuropsychiatric symptoms) and hepatic-type (mainly manifested ashepatic symptoms) groups according the mainsymptoms. ECG, RT-3DE-related parameters and serum myocardial injury markerssuch ashomocysteine (Hcy), cystatin C (CysC), cardiac troponin I (cTnI), amino-terminal B-type natriuretic peptide precursor (NT-proBNP), and total serum bilirubin (TBIL) of the both groups were recorded.

There were significant differences in the proportion of abnormal ECG results between the two groups, with 37 abnormal cases in the WD group and 14 abnormal cases in the control group (P<0.001) ; compared with the control group, HR, QRS duration, QT interval were increased and P-R interval were decreased in the WD group (P<0.01). There were significant differences in the proportion of abnormal RT-3DE results between the two groups, with 23 abnormal cases in the WD group and 10 abnormal cases in the control group (P<0.001) ; compared with the control group, LAD, E/E', EDV, ESV, PAP were increased and E', EF, SV were decreased in the WD group (P<0.01). Compared with the control group, Hcy, TBIL, CysC, cTnI were increased in the WD group. Compared with the hepatic-type group, QRS duration, QT interval and QTc interval were increased (P<0.05), LAD, IVST, LVD, ESV, EDV were increased, SV was decreased (P<0.05), Hcy, CysC, cTnI were increased (P<0.01) in the neurologic-type group.

No features of structural heart disease were found in WD patients, however, WD patients had a higher risk of developing subclinical cardiac damage than healthy controls. In particular, neurologic-type WD patients had a higher risk of subclinical cardiac dysfunction, ventricular remodeling, and myocardial fibrosis than hepatic-type WD patients. RT-3DE technique has high value in assessing cardiac function in WD patients.

Wilson病（WD）是一种较为罕见的引起铜排泄障碍的常染色体隐性遗传病，以肝脏和/或神经精神症状为主要临床表现，但随着受累器官和病情轻重程度的不同而呈现多元化，铜在全身各器官及系统中均有蓄积，导致出现其他（通常较轻）临床症状，包括Kayser-fleischer环（K-F）、溶血性疾病、肾功能受损、骨代谢异常、心肌炎、心律失常等器官和系统损伤。近年来，随着对WD的深入研究，人们发现其可能引起不同程度心脏损伤，甚至可带来致命性心脏疾病。迄今为止，临床上尚未将评估WD患者的心血管系统情况纳入其常规检测项目之中。因此，早期重视和干预WD患者的亚临床心脏病变，对WD患者的治疗和预后具有深远意义。

本研究基于实时三维超声心动图（RT-3DE）技术联合心电图（ECG）、心肌损伤标志物等临床常用血清学指标观察WD患者的心脏结构和功能的动态变化，旨在为评估WD早期心脏受累提供客观化影像学和血清学依据，以便及时干预WD患者早期亚临床心脏损害。

选取2021年10月—2022年10月于安徽中医药大学第一附属医院脑病中心就诊的WD患者60例（WD组），选取同期60名健康体检者作为健康对照组。WD患者根据其主要症状分为脑型WD（以神经精神症状为主）和肝型WD（以肝脏症状为主）。记录两组ECG、RT-3DE相关参数及心肌损伤血清标志物包括同型半胱氨酸（Hcy）、胱抑素C（CysC）、心肌肌钙蛋白I（cTnI）、氨基末端B型利钠肽前体（NT-proBNP）及血清总胆红素（TBIL）等指标。

（1）WD患者中有37例心电图结果显示至少存在一处异常，而健康对照组受试者仅有14例异常，两组ECG结果异常比例比较，差异有统计学意义（P<0.001）；与健康对照组相比：WD组心率（HR）、QRS、QT、校正后的QT（QTc）间期提高，而P-R缩短（P<0.01）。（2）WD患者RT-3DE结果异常有23例，而健康对照组有10例异常；两组RT-3DE结果异常比例比较，差异有统计学意义（P<0.001）；WD组左心房前后径（LAD）、E/E'、舒张末期容量（EDV）、收缩末期容量（ESV）、肺动脉压力（PAP）增加，E'、射血分数（EF）、每分钟搏出量值（SV）降低（P<0.01）；（3）与健康对照组相比，WD组血清学指标中Hcy、TBIL、CysC、cTnI指标升高（P<0.01）。（4）与肝型WD患者相比，脑型WD患者QRS、QT、QTc指标升高（P<0.05），脑型WD患者LAD、室间隔厚度（IVST）、左心室内径（LVD）、ESV、EDV参数升高，而SV降低（P<0.05），脑型WD患者Hcy、CysC、cTnI参数升高（P<0.01）。

WD患者中没有发现任何严重结构性心脏病的特征，但与健康对照组相比，WD患者更易出现亚临床心脏损害；特别是与肝型WD组相比，脑型WD发生亚临床心脏功能障碍、心室重构和心肌纤维化风险更高。RT-3DE技术评估WD患者心脏功能价值较高。