The impact of Wilson disease on myocardial tissue and function: a cardiovascular magnetic resonance study

Abstract

Background 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. Methods 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. Results 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. Conclusions 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).

Cardiac involvement in Wilson’s disease: a retrospective cohort study

“…A study from Poland showed that heart involvement in WD was manifested mainly by mild morphologic and functional changes and was more positive in WD patients with neurological form [20]. As for the study from Germany, in which the ratio of patients with neurological presentation to those with nonneurological presentation reached to 33:43, ECG abnormalities were present in 45% of WD patients [9]. Compared with the German study, the incidence of ECG abnormalities in our study was lower (29.4%).…”

“…Based on some studies, ECG abnormalities are frequent in WD patients, which can occur at an early age [17,18]. Cardiac manifestations such as arrhythmias, autonomic dysfunction, cardiomyopathy and sudden cardiac death have been reported [9,16,19]. A study from Poland showed that heart involvement in WD was manifested mainly by mild morphologic and functional changes and was more positive in WD patients with neurological form [20].…”

“…A recent magnetic resonance study from Germany showed that patients with WD had a reduced left ventricular global circumferential strain and abnormalities consistent with global and regional myocardial fibrosis [9]. Hypertrophic cardiomyopathy was also reported in the patients with WD [10].…”

Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients

“…Copper overload mainly occurs in the liver and brain and causes a variety of liver damage and neurological symptoms. Patients can be divided into WD-neuro + (patients with at least one neurological symptom) and WDneuro − (patients with a primarily hepatic involvement) patients [5,6]. However, several studies have shown that copper deposition can also occur in the heart and lead to clinical symptoms of related cardiovascular disease (e.g.…”

“…arrhythmias, atrial fibrillation, heart failure, etc.) [6][7][8][9][10][11][12][13]. Therefore, early detection of myocardial involvement is important even in asymptomatic WD patients.…”