Background: Wilson’s disease is an inherited autosomal recessive multi-systemic disorder characterized by reduced
excretion and consequently excessive accumulation of copper in different organs, such as the heart.
Results: In a prospective controlled trial, which is the largest to date, we evaluated 61 patients with Wilson’s
disease, age- and sex-matched to 61 healthy patients, for cardiac manifestation using cardiac magnetic resonance
imaging. Patients were under stable disease and had no signs of heart failure at the time of examination.
We detected a left ventricular cleft, an invagination penetrating more than 50% wall thickness of the adjoining
compact myocardium in diastole, in 20% of the patients (12 out of 61) compared to 5% among control patients (3
out of 61, p = 0.013). No correlation between the incidence of cleft and a certain genotype of Wilson’s disease was
found. All described cases were incidental findings and none of the patients showed other signs of cardiac
Conclusions: To conclude, the results of this study suggests that the increased occurrence of left ventricular clefts
is due to Wilson’s disease. Large studies with a long observation period are needed for further evaluation.
Cardiac magnetic resonance imaging
Left ventricular cleft
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?
Orphanet Journal of Rare Diseases
Charité - Universitätsmedizin Berlin