The heart in Wilson's disease

Assistant Editor-in-Chief: Brian Blank

Overview
Wilson's disease affects multiple organ systems including the cardiovascular system. Cardiovascular complications of Wilson's disease include cardiomyopathy, heart failure and cardiac arrhythmias.

Pathophysiology
Accumulation of copper in myocardial tissue is postulated to be the underlying mechanism of disease in the patient with Wilson's disease. At autopsy myocardial copper concentrations in patients with Wilson's disease ranged from 2.28 μgm / g to 1,428 μgm / g. It has been speculated that the wide range in copper concentrations could result from variable responses to copper chelation therapy. Increased copper levels were not correlated with the severity of the myocardial lesions which raises a question as to the role of the patient's autoimmune response to the copper deposition. Copper levels were evaluated within myocardial tissue.

Clinical Findings
Several patterns of cardiovascular involvement have been identified among patients with Wilson’s disease. Cardiovascular involvement was not present at the time of study entry in one study which followed 54 patients prospectively for 10 years:

Arrhythmias
More than 50% of patients developed electrocardiographic (ECG) abnormalities. These abnormalities included:
 * 1) Left ventricular hypertrophy
 * 2) Biventricular hypertrophy
 * 3) Early repolarization
 * 4) ST depression and T inversion
 * 5) Premature atrial contractions
 * 6) Premature ventricular contractions
 * 7) Atrial fibrillation
 * 8) Sinoatrial block
 * 9) Mobitz type 1 atrioventricular block

Wilson's Disease is often associated with resting tremors. Therefore, before diagnosing atrial fibrillation or other ECG abnormalities, tremor artifacts on the ECG should also be excluded in the patient with Wilson's disease.

Cardiomyopathy
On biopsy and or pathologic evaluation the following abnormalities can be present:
 * Interstitial fibrosis


 * Sclerosis of the intramyocardial small vessels


 * Perivascular myocarditis

Autonomic Dysfunction
As a manifestation of autonomic dysfunction, there can be an abnormal response to the Valsalva maneuver.

Complications from Cardiovascular Involvement
In some patients with Wilson's disease ventricular fibrillation and complications of progressive heart failure due to a cardiomyopathy can result in death.