Cardiac arrest in Wilson's disease after curative liver transplantation: a life‐threatening complication of myocardial copper excess?

Bobbio, Emanuele; Forsgard, Niklas; Oldfors, Anders; Szamlewski, Piotr; Bollano, Entela; Andersson, Bert; Lingbrant, Marie; Bergh, Niklas; Karason, Kristjan; Polte, Christian L.

doi:10.1002/ehf2.12395

Cited by 10 publications

(10 citation statements)

References 13 publications

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“…Biomedicines 2021, 9, x FOR PEER REVIEW 3 of 26 Wilson's disease (WD) is a multisystemic disorder with variable symptoms characterized by abnormal deposits of copper. Clinical signs depend on the organs where copper is accumulated over the course of the pathological process (Figure 1; reviewed in [4][5][6]).…”

Section: Clinical Picture Of Wilson's Diseasementioning

confidence: 99%

“…Further studies revealed that cardiac manifestations are relatively frequent and can be life-threatening. In fact, cardiac arrest can occur even in liver-transplanted patients [26]. Therefore, in the diagnosis and the follow-up of WD patients, tests such as electrocardiogram, cardiac biomarkers, echocardiography, and 24-h Holter monitoring should be included [27].…”

Section: Additional Clinical Manifestationsmentioning

confidence: 99%

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Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

et al. 2021

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Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions that mimic the WD’s phenotype (Wilson-like). Many patients are diagnosed using current available methods, but others remain in an uncertain area because of bordering ceruloplasmin levels, inconclusive genetic findings and unclear phenotypes. Currently, the available biomarkers for WD are ceruloplasmin and copper in the liver or in 24 h urine, but they are not solid enough. Therefore, the characterization of biomarkers that allow us to anticipate the evolution of the disease and the monitoring of new drugs is essential to improve its diagnosis and prognosis.

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Section: Clinical Picture Of Wilson's Diseasementioning

confidence: 99%

Section: Additional Clinical Manifestationsmentioning

confidence: 99%

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

et al. 2021

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“…The autopsy was not able to explain the reasons for death, and did not document any organic lesion. Hence, ventricular fibrillation was suspected to be responsible for the sudden unexplained death, as reported presciently 28 …”

Section: Resultsmentioning

confidence: 89%

“…Despite a 6‐year treatment with d ‐penicillamine, he developed cardiomyopathy and congestive HF that was refractory to medical therapy and that led to his death. More recently, cardiac arrest was reported in a 38‐year‐old man, 1 year after curative liver transplantation for WD 28 . The patient presented with ventricular fibrillation requiring advanced cardiopulmonary resuscitation and four defibrillations.…”

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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“…Because the latter is associated with an overall increased risk for HF and death, dedicated cardiac care is required. In fact, a recent case report on a patient with sudden cardiac death in Wilson Disease, associated with LGE, underscores the role of fibrosis as a potentially critical marker in WD [ 60 ].…”

Section: Discussionmentioning

confidence: 99%

The impact of Wilson disease on myocardial tissue and function: a cardiovascular magnetic resonance study

Salatzki

Mohr

Heins

et al. 2021

Journal of Cardiovascular Magnetic Resonance

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Background Systemic effects of altered serum copper processing in Wilson Disease (WD) might induce myocardial copper deposition and consequently myocardial dysfunction and structural remodeling. This study sought to investigate the prevalence, manifestation and predictors of myocardial tissue abnormalities in WD patients. Methods We prospectively enrolled WD patients and an age-matched group of healthy individuals. We applied cardiovascular magnetic resonance (CMR) to analyze myocardial function, strain, and tissue characteristics. A subgroup analysis of WD patients with predominant neurological (WD-neuro+) or hepatic manifestation only (WD-neuro−) was performed. Results Seventy-six patients (37 years (27–49), 47% women) with known WD and 76 age-matched healthy control subjects were studied. The prevalence of atrial fibrillation in WD patients was 5% and the prevalence of symptomatic heart failure was 2.6%. Compared to healthy controls, patients with WD had a reduced left ventricular global circumferential strain (LV-GCS), and also showed abnormalities consistent with global and regional myocardial fibrosis. WD-neuro+ patients presented with more severe structural remodeling and functional impairment when compared to WD-neuro− patients. Conclusions In a large cohort, WD was not linked to a distinct cardiac phenotype except CMR indexes of myocardial fibrosis. More research is warranted to assess the prognostic implications of these findings. Trial registration: This trial is registered at the local institutional ethics committee (S-188/2018).

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Cardiac arrest in Wilson's disease after curative liver transplantation: a life‐threatening complication of myocardial copper excess?

Cited by 10 publications

References 13 publications

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

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

The impact of Wilson disease on myocardial tissue and function: a cardiovascular magnetic resonance study

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