Abstract
BackgroundSystemic 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.MethodsWe 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.ResultsSeventy-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.ConclusionsIn 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).
Highlights
Systemic effects of altered serum copper processing in Wilson Disease (WD) might induce myocardial copper deposition and myocardial dysfunction and structural remodeling
Thirty-three WD patients suffered of neurological symptoms (WD-neuro+), while 43 did not have pathological neurological tendency, but had a primarily hepatic manifestation (WD-neuro−)
The WD-neuro+ subgroup showed a non-significant trend for male sex and a higher prevalence of hypertension (p = 0.09 and 0.07 respectively) (Table 1)
Summary
Systemic effects of altered serum copper processing in Wilson Disease (WD) might induce myocardial copper deposition and myocardial dysfunction and structural remodeling. This study sought to investi‐ gate the prevalence, manifestation and predictors of myocardial tissue abnormalities in WD patients. Whether copper accumulation in WD induces toxic effects in cardiomyocytes and the clinical consequences of these myocardial accumulations are poorly understood. Grandis et al demonstrated in a longitudinal cohort study a higher incidence of heart failure (HF) and atrial fibrillation in WD patients, indicating a potential adverse effect of copper on the heart [14]. Cardiovascular magnetic resonance (CMR) allows for a non-invasive tissue characterization, visualizing edema, fibrosis, and pathological infiltrations [15]. CMR has been successfully used for diagnosis and therapy monitoring in other storage diseases such as myocardial iron overload and amyloidosis [16, 17]. Survival in patients with thalassemia major improved significantly after the introduction of CMR for identifying myocardial iron accumulation [18]. Imaging regional fibrosis using CMR late gadolinium enhancement (LGE) and quantitative measurement of extracellular volume (ECV) provide independent prognostic markers in cardiac amyloidosis [19]
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