Cardiac involvement in Wilson disease: pathophysiology, clinical spectrum, and multimodality imaging assessment

Cardiac involvement in Wilson disease (WD), a rare autosomal recessive disorder of copper metabolism, has been historically underrecognized but is increasingly shown to be clinically significant. This review synthesizes the current understanding of the pathophysiology, clinical presentations, and the important but still evolving role of multimodality imaging in assessing cardiac disease in WD. Myocardial copper deposition directly and via secondary oxidative stress leads to cardiomyocyte injury, fibrosis, and electrical instability. The clinical spectrum ranges from subclinical abnormalities to overt cardiomyopathy, life-threatening arrhythmias, and sudden cardiac death. Electrocardiography often reveals conduction abnormalities and repolarization changes. Echocardiography, including advanced techniques like speckle-tracking, can detect subtle systolic and diastolic dysfunction, often before a decline in ejection fraction. Cardiovascular magnetic resonance (CMR) offers unique advantages for non-invasive tissue characterization and has shown promise in detecting myocardial abnormalities in WD, with studies consistently demonstrating increased extracellular volume, native T1/T2 values, and late gadolinium enhancement—particularly at the right ventricular insertion points and interventricular septum—indicating diffuse fibrosis and inflammation; however, its role in routine clinical practice remains to be standardized. Recent CMR studies also suggest concomitant coronary microvascular dysfunction. This review underscores the importance of systematic cardiac evaluation in WD patients, integrating clinical assessment with multimodality imaging to enable early detection, risk stratification, and timely intervention.