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.