A new study from Karolinska University Hospital and Karolinska Institutet in collaboration with Uppsala University Hospital and Uppsala University shows suspected small vessel disease in young patients with Wilson’s disease. The study was recently published in the Journal of Cardiovascular Magnetic Resonance.
Wilson’s disease is a rare genetic disease, causing copper accumulation in the body, including the heart. In the study, 17 young patients with well-treated and stable Wilson’s disease were examined using advanced magnetic resonance imaging technique, where the heart’s perfusion, function and tissue properties were mapped. The study showed suspected small vessel disease, impaired cardiac function and mild scarring among patients with Wilson’s disease, compared to age- and sex-matched healthy volunteers.
“Wilson’s disease is a rare disease, and we do not fully understand the disease mechanisms. Heart involvement has previously been described among patients with Wilson’s disease even in young age, including sudden cardiac death. Therefore, it is important to study this group,” says Jannike Nickander, Associate professor and Resident at the Department of Molecular Medicine and Surgery, Karolinska Institutet and Karolinska University Hospital.
“Our study contributes with knowledge on early heart involvement in patients with Wilson’s disease, which we saw in these patients despite a young age, well-functioning treatment and no clear symptoms from the heart. Therefore, this patient group may need assessment of their heart health at diagnosis and follow-up going forward,” says Nickander.
Nickander with her students research small vessel disease in different diseases and have previously published studies on small vessel disease in long-term follow-up after myocardial infarction with normal coronary arteries and following severe COVID-19. Now, a large study is conducted on small vessel disease at index in patients with myocardial infarction and normal coronary arteries.
More information
Rebecka Steffen Johansson et al, Increased extracellular volume, reduced stress perfusion, and worse systolic function in Wilson’s disease, Journal of Cardiovascular Magnetic Resonance (2026). DOI: 10.1016/j.jocmr.2025.102669
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