Cardiac Manifestation in Wilson Disease: Results of a 9‐Year Prospective Cohort

ABSTRACT

Wilson disease (WD) is a rare autosomal recessive disorder. Although hepatic and neurologic manifestations are characterized, long‐term cardiac outcomes remain poorly defined. We report the first longitudinal study systematically assessing cardiac symptoms and events over nearly a decade in WD. In 2016, 61 WD patients underwent prospective cardiac evaluation including echocardiography, MRI and 24‐h ECG. Nine years later, we re‐contacted all surviving participants by telephone and emailed standardized questionnaires. Baseline characteristics of respondents and non‐respondents were compared to assess selection bias; mortality data were obtained from family interviews and medical records. Outcomes were available for 31 of 61 patients (27 interviewed, 4 deceased; no cardiac‐related deaths) after a mean follow‐up of 9.1 years. Respondents did not differ from those lost to follow‐up, except for fewer disease exacerbations. General and cardiac health remained unchanged in about half (48% and 52%), worsened in ~40%, and improved in ≤ 15%. Palpitations were frequent (70%), whereas dizziness (26%), syncope (7%), and leg oedema (15%) were infrequent and comparable to general‐population estimates. Daily activity was unrestricted in 44%, mildly to moderately restricted in 52% and severely restricted in 4%. Only six patients (22%) remained in routine cardiology care. Baseline imaging, strain, autonomic and laboratory parameters did not predict symptoms at follow‐up. Over 9 years, cardiac symptoms in WD were common but mostly mild to moderate. These findings support a symptom‐guided cardiological assessment within interdisciplinary care. Whether systematic screening of asymptomatic patients is warranted remains uncertain and requires dedicated prospective study.