Subclinical diastolic dysfunction in children with Wilson's disease assessed by tissue Doppler echocardiography: a possible early predictor of cardiac involvement

Background The aim of this study was to evaluate the left ventricular systolic and diastolic functions and cardiac rhythm problems for the early detection of myocardial dysfunction in children with Wilson's disease. Methods We compared patients who had Wilson's disease (n=22) with age- and sex-matched healthy control subjects (n=21). The diagnosis of Wilson's disease was based on clinical symptoms and laboratory tests (serum ceruloplasmin, urinary and hepatic copper concentrations). Standard echocardiographic examination, as well as pulsed-wave Doppler, tissue Doppler echocardiography examinations of all patients were performed. 24-hour ECG Holter monitoring was also performed in all subjects. Results All patients were asymptomatic on cardiological examination and had sinus rhythm on electrocardiography. Left ventricular ejection fraction, fractional shortening, wall thickness and left ventricular mass were similar in both groups. In comparison to healthy subjects, children with Wilson's disease had significantly lower mitral E velocity, mitral E/A ratio (P=0.046, P=0.021, respectively) and longer isovolumetric relaxation time values (P=0.015) as estimated by pulsed wave Doppler echocardiography. Wilson patients had longer isovolumetric relaxation time (IVRT) values estimated by tissue Doppler echocardiography (P=0.006) compared to the controls. On 24-hour ECG Holter monitoring, none of the Wilson patients showed life-threatening cardiac arrhythmia. Conclusion Our study showed results that might be consistent with subclinical diastolic dysfunction in cardiologically asymptomatic Wilson's disease children which probably represents an early stage of cardiac involvement. Therefore it may be useful to monitor these signs in the follow-up of the patients.