ArticleOrphanet journal of rare diseases2019
Left ventricular clefts - incidental finding or pathologic sign of Wilson's disease?
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.
- Systematic review of cardiac ventricular dysfunction in Wilson's disease: mechanisms, diagnostic advancements, and management strategies.Future cardiology · 2025Pooled it
- Cardiac involvement in Wilson disease: pathophysiology, clinical spectrum, and multimodality imaging assessment.Frontiers in cardiovascular medicine · 2026Review
- Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients.Insights into imaging · 2024Article
- T1 Mapping Values May Be Associated with Early Myocardial Involvement in Young Patients with Wilson Disease.Radiology. Cardiothoracic imaging · 2022Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundWilson'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.
resultsIn 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 involvement.
conclusionsTo 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.
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