Cardiac involvement in Wilson disease

J Inherit Metab Dis. 2002 Aug;25(4):269-77. doi: 10.1023/a:1016546223327.


Background: Wilson disease is an inherited autosomal recessive disorder of copper metabolism resulting in pathological accumulation of copper in the liver, brain and other tissues. One of the reported manifestations is cardiac involvement.

Methods: We studied 42 patients with Wilson disease (19 men and 23 women, mean age 34 +/- 10 y) and 42 age- and sex-matched healthy volunteers. All subjects underwent complete echocardiographic examination; 24 h ECG Holter monitoring was performed in 23 Wilson disease patients.

Results: In comparison to healthy subjects, patients with Wilson disease had increased thickness of the interventricular septum (9.5 +/- 1.4 vs 8.6+/-1.1 mm, p < 0.01) and left ventriclular (LV) posterior wall (9.1 +/- 1.3 vs 8.2 +/- 1.0 mm, p < 0.01). While the two groups did not differ in LV mass index, relative LV wall thickness was significantly increased in Wilson disease patients compared to control subjects (0.39 +/- 0.06 vs 0.34 +/- 0.04 p < 0.001). Concentric LV remodelling was present in 9 patients (21%) and LV hypertrophy in one patient. Systolic LV function showed a nonsignificant trend towards lower values in Wilson disease patients (EF 62 +/- 5% vs 64 +/- 50%, p = 0.06). Diastolic filling and the frequency of valvular abnormalities were comparable in both groups. The established echocardiographic abnormalities did not correlate with the type of Wilson disease manifestation, the presence of the His1069Gln mutation, laboratory parameters or the duration and type of therapy. Twenty-four-hour ECG Holter monitoring detected ECG abnormalities in 10 patients (42%), the most frequent findings being runs of supraventricular tachycardias and frequent supraventricular ectopic beats.

Conclusions: Cardiac involvement in Wilson disease patients was mild, characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling and a relatively high frequency of benign supraventricular tachycardias and extrasystolic beats.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Arrhythmias, Cardiac / etiology
  • Arrhythmias, Cardiac / physiopathology
  • Atrial Premature Complexes / physiopathology
  • Ceruloplasmin / metabolism
  • Copper / blood
  • Copper / metabolism
  • Echocardiography
  • Electrocardiography, Ambulatory
  • Female
  • Heart Diseases / etiology*
  • Heart Diseases / physiopathology
  • Heart Valves / physiopathology
  • Hepatolenticular Degeneration / complications*
  • Hepatolenticular Degeneration / genetics
  • Hepatolenticular Degeneration / physiopathology
  • Humans
  • Male
  • Ventricular Function, Left


  • Copper
  • Ceruloplasmin