Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?

Zhang, Kun; Reuner, Ulrike; Weidauer, Marie; Speiser, Uwe; Ibrahim, Karim; Christoph, Marian; Heinzel, Frank R.; Pieske, Burkert; Heidrich, Felix M.; Quick, Silvio

doi:10.1186/s13023-019-1238-7

Cited by 4 publications

(3 citation statements)

References 5 publications

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“…In a prospective controlled cardiac MRI trial, 20 LV clefts, also called crypts, defined as invaginations penetrating more than 50% of the wall thickness of the adjoining compact myocardium in diastole, were detected in 12 patients (20%) compared with 5% in healthy controls, the difference being statistically significant ( P = .013). It is not clear whether these clefts are related to myocardial fiber or fascicle disarray, in WD.…”

Section: Resultsmentioning

confidence: 99%

Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death

Chevalier

Benyounes

Obadia

et al. 2021

J of Inher Metab Disea

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Wilson disease (WD) is a rare genetic condition that results from a build‐up of copper in the body. It requires life‐long treatment and is mainly characterized by hepatic and neurological features. Copper accumulation has been reported to be related to the occurrence of heart disease, although little is known regarding this association. We have conducted a systematic review of the literature to document the association between WD and cardiac involvement. Thirty‐two articles were retained. We also described three cases of sudden death. Cardiac manifestations in WD include cardiomyopathy (mainly left ventricular (LV) remodeling, hypertrophy, and LV diastolic dysfunction, and less frequently LV systolic dysfunction), increased levels of troponin, and/or brain natriuretic peptide, electrocardiogram (ECG) abnormalities, and rhythm or conduction abnormalities, which can be life‐threatening. Dysautonomia has also been reported. The mechanism of cardiac damage in WD has not been elucidated. It may be the result of copper accumulation in the heart, and/or it could be due to a toxic effect of copper, resulting in the release of free oxygen radicals. Patients with signs and/or symptoms of cardiac involvement or who have cardiovascular risk factors should be examined by a cardiologist in addition to being assessed by their interdisciplinary treating team. Furthermore, ECG, cardiac biomarkers, echocardiography, and 24‐hours or more of Holter monitoring at the diagnosis and/or during the follow‐up of patients with WD need to be evaluated. Cardiac magnetic resonance imaging, although not always available, could also be a useful diagnostic tool, allowing assessment of the risk of ventricular arrhythmias and further guidance of the cardiac workup.

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Section: Resultsmentioning

confidence: 99%

Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death

Chevalier

Benyounes

Obadia

et al. 2021

J of Inher Metab Disea

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“…ECG abnormalities were found in 19 patients, including premature ventricular contractions (n = 4), sinus bradycardia (n = 11), and sinus arrhythmia (n = 4). The median UWDRS score of WD-neuro + patients was 6.0 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11).…”

Section: Baseline Characteristicsmentioning

confidence: 97%

“…arrhythmias, atrial fibrillation, heart failure, etc.) [6][7][8][9][10][11][12][13]. Therefore, early detection of myocardial involvement is important even in asymptomatic WD patients.…”

Section: Introductionmentioning

confidence: 99%

Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients

Deng,

Zhang,

Jia

et al. 2024

Insights Imaging

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Objectives To explore the characteristics of myocardial involvement in Wilson Disease (WD) patients by cardiac magnetic resonance (CMR). Methods We prospectively included WD patients and age- and sex-matched healthy population. We applied CMR to analyze cardiac function, strain, T1 maps, T2 maps, extracellular volume fraction (ECV) maps, and LGE images. Subgroup analyzes were performed for patients with WD with predominantly neurologic manifestations (WD‐neuro +) or only hepatic manifestations (WD‐neuro −). Results Forty-one WD patients (age 27.9 ± 8.0 years) and 40 healthy controls (age 25.4 ± 2.9 years) were included in this study. Compared to controls, the T1, T2, and ECV values were significantly increased in the WD group (T1 1085.1 ± 39.1 vs. 1046.5 ± 33.1 ms, T2 54.2 ± 3.3 ms vs. 51.5 ± 2.6 ms, ECV 31.8 ± 3.6% vs. 24.3 ± 3.7%) (all p < 0.001). LGE analysis revealed that LGE in WD patients was predominantly localized to the right ventricular insertion point and interventricular septum. Furthermore, the WD‐neuro + group showed more severe myocardial damage compared to WD‐neuro − group. The Unified Wilson Disease Rating Scale score was significantly correlated with ECV (Pearson’s r = 0.64, p < 0.001). Conclusions CMR could detect early myocardial involvement in WD patients without overt cardiac function dysfunction. Furthermore, characteristics of myocardial involvement were different between WD‐neuro + and WD‐neuro − , and myocardial involvement might be more severe in WD‐neuro + patients. Critical relevance statement Cardiac magnetic resonance enables early detection of myocardial involvement in Wilson disease patients, contributing to the understanding of distinct myocardial characteristics in different subgroups and potentially aiding in the assessment of disease severity. Key points • CMR detects WD myocardial involvement with increased T1, T2, ECV. • WD‐neuro + patients show more severe myocardial damage and correlation with ECV. • Differences of myocardial characteristics exist between WD‐neuro + and WD‐neuro − patients. Graphical Abstract

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Wilson disease

Aggarwal

Bhatt

2020

Current Opinion in Neurology

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Purpose of review The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. Recent findings Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups – patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood. A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified. In addition to a better understanding of the phenotype of Wilson disease itself, features of some related disorders (‘Wilson disease-mimics’) have been described leading to a better understanding of copper homeostasis in humans. These disorders include diseases of copper disposition, such as mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome, Niemann–Pick type C, and certain congenital disorders of glycosylation, as well as analogous disorders of iron and manganese metabolism. Outcomes for existing treatments, including in certain patient subpopulations of interest, are better known. Novel treatment strategies being studied include testing of bis-choline tetrathiomolybdate in phase 2 clinical trial as well as various preclinical explorations of new copper chelators and ways to restore ATP7B function or repair the causative gene. Summary Recent studies have expanded the phenotype of Wilson disease, identified rare inherited metal-related disorders that resemble Wilson disease, and studied long-term outcomes of existing treatments. These developments can be expected to have an immediate as well as a long-term impact on the clinical management of the disease, and point to promising avenues for future research.

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Left ventricular clefts – incidental finding or pathologic sign of Wilson’s disease?

Cited by 4 publications

References 5 publications

Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death

Cardiac involvement in Wilson disease: Review of the literature and description of three cases of sudden death

Myocardial involvement characteristics by cardiac MR imaging in neurological and non-neurological Wilson disease patients

Wilson disease

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