Cardiac assessment in Wilson’s disease patients based on electrocardiography and echocardiography examination

INTRODUCTION: Wilson's disease (WD) is a rare genetic disorder that leads to impairments in copper metabolism. Patients principally exhibit liver and neuropsychiatric symptoms, but because copper also accumulates in all body organs, other (typically milder) clinical symptoms can occur. To date, cardiac involvement has not been thoroughly investigated in patients with WD. This study aimed to evaluate heart structure and function in patients with WD with commonly available diagnostic methods. MATERIAL AND METHODS: We compared 125 WD patients with an age- and sex-matched control group. Patients with WD were grouped according to their dominant symptoms - neurologic or hepatic. All subjects underwent clinical, electrocardiographic (ECG), and echocardiographic examinations. Left ventricular systolic function was similar in the WD and the control group (ejection fraction: 67.5% vs. 67.7%). On tissue Doppler echocardiography patients with WD demonstrated slowing of myocardial relaxation, which was more evident in the neurologic group. CONCLUSIONS: Heart involvement in WD was manifested mainly by mild left ventricular hypertrophy and subclinical changes in diastolic function, particularly in the patients with the neurologic form of disease.