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Cardiac and autonomic function in patients with Wilson's disease
Silvio Quick1, Ulrike Reuner2, Marie Weidauer3
1Department for Internal Medicine and Cardiology, Herzzentrum Dresden, Technische Universität Dresden, Fetscherstr. 76, 01307, Dresden, Germany. Silvio.quick@mailbox.tu-dresden.de.
Orphanet Journal of Rare Diseases
|January 30, 2019
Summary
Wilson's disease (WD) patients show signs of cardiac involvement, including diastolic dysfunction and reduced autonomic function. Copper accumulation may affect the heart, warranting cardiological evaluation alongside WD treatment.
Area of Science:
- Cardiology
- Neurology
- Genetics
Background:
- Wilson's disease (WD) is a genetic disorder characterized by excessive copper accumulation.
- The precise impact of copper accumulation on cardiac function and autonomic control in WD patients remains unclear.
- Understanding cardiac involvement is crucial for comprehensive WD management.
Purpose of the Study:
- To investigate cardiac involvement, including structural heart disease and autonomic dysfunction, in patients with Wilson's disease.
- To compare cardiac parameters between WD patients and healthy controls.
- To explore correlations between WD severity and cardiac biomarkers.
Main Methods:
- Prospective study of 61 WD patients and 61 matched healthy controls.
- Utilized clinical examination, blood tests, echocardiography, and 24-hour ECG monitoring.
- Assessed autonomic function using triangular index (TI) and SDNN-index.
Main Results:
- No significant difference in ventricular systolic function between groups, but 5 WD patients had reduced LVEF.
- Diastolic dysfunction was significantly more prevalent in WD patients (9/61 vs. 0/61).
- WD severity correlated with NT-pro BNP; exacerbations linked to higher troponin levels. Autonomic function (TI, SDNN) was significantly reduced in WD patients.
Conclusions:
- Cardiac involvement and autonomic dysfunction are possible in Wilson's disease, though the exact cause is unknown.
- Suggests that WD patients with cardiac symptoms should undergo cardiological examination.
- Highlights the need for an interdisciplinary approach to WD patient care, including cardiac specialists.