Assessment of cardiac function and electrocardiographic findings in patients with Wilson’s disease

Karhan, Asuman Nur; Aykan, Hayrettin Hakan; Gümüş, Ersin; Donmez, Yasemin Nuran; Alehan, Dursun; Özkutlu, Süheyla; Demır, Hülya; Saltık-Temizel, İnci Nur; Özen, Hasan; Yüce, Aysel

doi:10.1017/s104795111900180x

Cited by 8 publications

(7 citation statements)

References 26 publications

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“…Regarding the etiological origins of ischemic stroke, Wilson's disease generates cardiac abnormalities (such as left and bi-ventricular hypertrophy, repolarization abnormalities, extrasystoles, atrial abnormalities, conduction disturbances), but the repeated heart tests were normal in our patient [7,8]. In 2017, Kouvelas et al [9] demonstrated early neurovascular involvement despite the very young age of these patients and the concomitant copper-chelating therapy.…”

Section: Case Presentationmentioning

confidence: 71%

Stroke Episode in a Young Patient with Wilson’s Disease

2023

Arch Pediatr

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Wilson's disease is an autosomal recessive genetic disease with a copper metabolism disorder leading to hepatic, kidney, hematologic and neurologic symptoms. Stroke episodes in this pathology have not been described in the literature.We report a 13-year-old girl with Wilson's disease discovered on neurological presentation, quickly treated with trihexyphenidyl and trientine. She was heterozygous in the ATP7B gene with two pathogenic variants (c.2128 G>A and c.3188C>T). Three months later, an acute neurological episode with a left capsulolenticular ischemic stroke episode occurred. Brain magnetic resonance imaging revealed a new fluid-attenuated inversion recovery hypersignal in the left internal capsule and striatum. Her neurological deficit regressed completely at six months.Few studies have reported Wilson's disease patients with stroke-like episodes. No usual cause was found during neurologic explorations. Heart tests and coagulation were normal. Trientine and trihexyphenidyl are not known to generate stroke episodes. We here describe one of the first cases of stroke in Wilson's disease.

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Section: Case Presentationmentioning

confidence: 71%

Stroke Episode in a Young Patient with Wilson’s Disease

2023

Arch Pediatr

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“…Higher maximal P‐wave durations and P‐wave dispersions on resting electrocardiograms (ECGs) have also been reported in 18 WD patients compared with 15 matched healthy controls 7 . The QT and P‐wave dispersion values have also been reported to be significantly higher in children with WD compared to age‐ and gender‐matched healthy controls ( P = .02 and .04, respectively) 10 . In another study, 9 22 out of 51 children had at least one abnormality on the resting ECG.…”

Section: Resultsmentioning

confidence: 95%

“…ECG abnormalities are frequent, they can occur at an early age, 9,10 and they can be secondary to the deposition of copper in the heart. A correlation between P‐wave dispersion and serum copper levels has been reported 7 .…”

Section: Discussionmentioning

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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“…ECG is a noninvasive and easily operated routine examination of the heart. Based on some studies, ECG abnormalities are frequent in WD patients, which can occur at an early age [17,18]. Cardiac manifestations such as arrhythmias, autonomic dysfunction, cardiomyopathy and sudden cardiac death have been reported [9,16,19].…”

Section: Discussionmentioning

confidence: 99%

Cardiac involvement in Wilson’s disease: a retrospective cohort study

Wang

Gao

Sun

et al. 2022

European Journal of Gastroenterology &Amp; Hepatology

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Background and objectives Wilson’s disease (WD) is an inherited disorder with perturbations in copper metabolism and can cause multiorgan damage. This study aims to explore cardiac findings mainly based on electrocardiography (ECG) in WD patients. Methods We retrospectively enrolled adult patients who were diagnosed with WD between January 2011 and December 2020. Demographic and clinical data were collected and reevaluated. Results A total of 126 patients were included. There were 71 men and 55 women. The mean age was 27.2 years. Ninety-nine had hepatic presentation as the initial symptom and 27 had neuropsychiatric presentation as the initial symptom. Thirty-seven patients (29.4%) had cardiac manifestations. Of these patients, nine presented apparent cardiac symptoms (three with discontinuous chest tightness, three with dizziness, two with palpitation and one with atypical chest pain) and 28 had asymptomatic electrocardiography (ECG) abnormalities. Among the nine patients, four had second- or third-degree atrioventricular block, three had ST-segment change and two had ventricular tachycardia. ECG abnormalities in the 28 patients included increase in the width of the QRS complex in 8, atrial premature beats in 8, T-wave inversion in 5, P-wave inversion in 2, sinus bradycardia in 2, ST-segment change in 2, and coexistence of sinus bradycardia and T-wave inversion in 1. No statistical difference (P = 0.32) existed in the occurrence of ECG abnormalities between patients with hepatic presentation (27/99) and those with neuropsychiatric presentation (10/27). Conclusion Cardiac involvement is not rare in adult WD patients. We suggest that cardiac evaluation should be routinely performed in the population.

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Assessment of cardiac function and electrocardiographic findings in patients with Wilson’s disease

Cited by 8 publications

References 26 publications

Stroke Episode in a Young Patient with Wilson’s Disease

Stroke Episode in a Young Patient with Wilson’s Disease

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

Cardiac involvement in Wilson’s disease: a retrospective cohort study

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