Cardiac involvement in children with Wilson’s disease | ||
| Fayoum University Medical Journal | ||
| Volume 15, Issue 3, September 2025, Pages 164-174 PDF (746.72 K) | ||
| Document Type: Review Articles | ||
| DOI: 10.21608/fumj.2025.367950.1477 | ||
| Authors | ||
| doaa badawi abd elghafar* 1; Manal A Ismail2; sara ibrahim abo elnour2 | ||
| 1pediatrics, faculty of medicine, fayoum university | ||
| 2pediatric ,faculty of medicine fayoum university | ||
| Abstract | ||
| Abstract Introduction: Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, leading to defective copper metabolism. Excess copper accumulation in cardiac tissues can lead to oxidative stress, mitochondrial dysfunction, and direct myocardial toxicity. Aim of the study: To assess the cardiac involvement in patients suffering from WD. Subjects and Methods: We searched Cochrane, Web of Science, PubMed, and SCOPUS for relevant articles. We utilized a strategy for our search by combining these keywords: (‘’ Heart’’ OR ‘’ cardiac’’ OR ‘’ cardiovascular’’ OR ‘’ echocardiography’’) AND (‘’ Wilson's disease ‘’). Quality evaluation of the involved studies was assessed regarding to Cochrane’s risk of bias tool. Results: we found that there was no substantial difference between the control and WD cohorts in terms of left ventricular wall diameters and thicknesses, left ventricular ejection fraction, left ventricular diastolic function parameters Regarding left ventricular (LV) ejection fraction, there were no variations between the groups (p = 0.382). There was a notable decrease in tricuspid annular plane systolic excursion, right ventricular (RV) fractional area change, and RV ejection fraction, which measures systolic RV function. Conclusions: Copper accumulation in cardiac tissues can lead to electrophysiological abnormalities (arrhythmias), cardiomyopathy, autonomic dysfunction, and endothelial damage. These complications, if undiagnosed or untreated, may contribute to an increased risk of cardiovascular morbidity and mortality. | ||
| Keywords | ||
| Wilson disease; Copper accumulation; cardiac; echocardiography; cardiomyopathy | ||
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