Cardiac involvement in Wilson disease

Hlubocká, Zuzana; Marecek, Z; Linhart, Aleš; Kejrova, E.; Pospíšilová, Lenka; Martásek, Pavel; Aschermann, Michael

doi:10.1023/a:1016546223327

Cited by 71 publications

(46 citation statements)

References 21 publications

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“…Hlubocka et al suggested that cardiac changes seen in Wilson’s disease are not only related to copper accumulation but also to free oxygen radicals 9. Therefore echocardiography is an important tool to assess asymptomatic Wilson’s patients.…”

Section: Discussionmentioning

confidence: 99%

Strain and strain rate echocardiography in children with Wilson’s disease

Karakurt

Çelik

Selimoğlu

et al. 2016

CVJA

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SummaryObjectiveThis study aimed to evaluate strain and strain rate echocardiography in children with Wilson’s disease to detect early cardiac dysfunction.MethodsIn this study, 21 patients with Wilson’s disease and a control group of 20 age- and gender-matched healthy children were included. All the patients and the control group were evaluated with two-dimensional (2D) and colour-coded conventional transthoracic echocardiography by the same paediatric cardiologist using the same echocardiography machine (Vivid E9, GE Healthcare, Norway) in standard precordial positions, according to the American Society of Echocardiography recommendations. 2D strain and strain rate echocardiography were performed after the ECG probes of the echocardiography machine were adjusted for ECG monitoring. Longitudinal, transverse and radial strain, and strain rate were assessed from six basal and six mid-ventricular segments of the left ventricle, as recommended by the American Society of Echocardiography.ResultsLeft ventricular wall thickness, systolic and diastolic diameters, left ventricular diameters normalised to body surface area, end-systolic and end-diastolic volumes, cardiac output and cardiac index values were within normal limits and statistically similar in the patient and control groups (p < 0.05).Global strain and strain rate: the patient group had a statistically significant lower peak A longitudinal velocity of the left basal point and peak E longitudinal velocity of the left basal (VAbasR) point, and higher global peak A longitudinal/circumferential strain rate (GSRa) compared to the corresponding values of the control group (p < 0.05).Radial strain and strain rate: end-systolic rotation [ROT (ES)] was statistically significantly lower in the patient group (p < 0.05). Longitudinal strain and strain rate: end-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05).Segmental analysis showed that rotational strain measurement of the anterior and lateral segments of the patient group were statistically significantly lower than the corresponding values of the control group (p < 0.05). Segmental analysis showed statistically significantly lower values of end-systolic longitudinal strain [STSR (ES)] of the basal lateral (p < 0.05) and end-systolic longitudinal strain [SLSC (ES)] of the basal septal segment (p < 0.05) in the patient group.End-systolic longitudinal strain [SLSC (ES)] and positive peak transverse strain (STSR peak P) were statistically significantly lower in the patient group (p < 0.05). Segmental analysis showed statistically significantly lower values of endsystolic longitudinal strain [SLSC (ES)] of the mid-anterior and basal anterior segments (p < 0.05), end-systolic longitudinal strain [STSR (ES)] measurements of the posterior and mid-posterior segments, end-systolic longitudinal displacement [DLDC (ES)] of the basal posterior, mid-posterior and mid-antero-septal segments in the patient group.Conclusion...

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Section: Discussionmentioning

confidence: 99%

Strain and strain rate echocardiography in children with Wilson’s disease

Karakurt

Çelik

Selimoğlu

et al. 2016

CVJA

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“…Aminoaciduria, nephrolithiasis, arthropathy, premature osteoporosis and cardiomyopathy have been reported as unusual presenting symptoms of WD 20–23. Ophthalmologic features are also common, and they are typically asymptomatic but may be useful in supporting the diagnosis.…”

Section: Clinical Presentationmentioning

confidence: 99%

Update on the clinical management of Wilson's disease

Hedera

2017

TACG

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Wilson’s disease (WD), albeit relatively rare, is an important genetic metabolic disease because of highly effective therapies that can be lifesaving. It is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Neurologic, psychiatric and hepatologic problems in WD are very nonspecific, and we discuss the most common clinical phenotypes. The diagnosis remains laboratory based, and here we review the most important challenges and pitfalls in laboratory evaluation of WD, including the emerging role of genetic testing in WD diagnosis. WD is a monogenic disorder but has very high allelic heterogeneity with >500 disease-causing mutations identified, and new insights into phenotype–genotype correlations are also reviewed. The gold standard of therapy is chelation of excessive copper, but many unmet needs exist because of possible clinical deterioration in treated patients and potential adverse effects associated with currently available chelating medications. We also review the most promising novel therapeutic approaches, including chelators targeting specific cell types, cell transplantation and gene therapy.

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“…Cardiac involvement in Wilson disease patients is characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling. Children with Wilson diseases were asymptomatic upon cardiological examination, but had significantly lower mitral E velocities, mitral E/A ratios as estimated by pulsed wave Doppler echocardiography [129,130] . Hemochromatosis: Hemochromatosis is an autosomal recessive disorder affecting the white population.…”

Section: Metabolic Causesmentioning

confidence: 99%

Hepato-cardiac disorders

Fouad¹,

Yehia²

2014

WJH

111

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Understanding the mutual relationship between the liver and the heart is important for both hepatologists and cardiologists. Hepato�cardiac diseases can be classified into heart diseases affecting the liver, liver diseases affecting the heart, and conditions affecting the heart and the liver at the same time. �ifferential diagnoses of liver injury are extremely important in a cardiologist's clinical practice calling for collaboration between cardiologists and hepatologists due to the many other diseases that can affect the liver and mimic haemodynamic injury. Acute and chronic heart failure may lead to acute ischemic hepatitis or chronic conges� tive hepatopathy. Treatment in these cases should be directed to the primary heart disease. In patients with advanced liver disease, cirrhotic cardiomyopathy may develop including hemodynamic changes, diastolic and systolic dysfunctions, reduced cardiac performance and electrophysiological abnormalities. Cardiac evaluation is important for patients with liver diseases especially before and after liver transplantation. Liver transplanta� tion may lead to the improvement of all cardiac chang� es and the reversal of cirrhotic cardiomyopathy. There are systemic diseases that may affect both the liver and the heart concomitantly including congenital, metabolic and inflammatory diseases as well as alcoholism. This review highlights these hepatocardiac diseases

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Cardiac involvement in Wilson disease

Abstract: Cardiac involvement in Wilson disease patients was mild, characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling and a relatively high frequency of benign supraventricular tachycardias and extrasystolic beats.

Cited by 71 publications

References 21 publications

Strain and strain rate echocardiography in children with Wilson’s disease

Strain and strain rate echocardiography in children with Wilson’s disease

Update on the clinical management of Wilson's disease

Hepato-cardiac disorders

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Cardiac involvement in Wilson disease

Abstract: Cardiac involvement in Wilson disease patients was mild, characterized by LV parietal thickening with an increased prevalence of concentric LV remodelling and a relatively high frequency of benign supraventricular tachycardias and extrasystolic beats.

Cited by 71 publications

References 21 publications

Strain and strain rate echocardiography in children with Wilson’s disease

Strain and strain rate echocardiography in children with Wilson’s disease

Update on the clinical management of Wilson&#39;s disease

Hepato-cardiac disorders

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Product

Resources

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Update on the clinical management of Wilson's disease