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

Year: 2026

Type: article

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.

Source: JIMD Reports

DOI: 10.1002/jmd2.70106