BackgroundThe clinical effect of copper accumulation on the heart of patients suffering from Wilson’s disease (WD) is not completely understood. We aimed to determine if patients with WD show signs of cardiac involvement, structural heart disease or autonomic dysfunction. In this prospective trial, we studied 61 patients (mean age 44.3 ± 15.2 years, 51% males) with WD and compared them to 61 age- and gender-matched healthy controls. All subjects underwent clinical examination, blood tests, echocardiography and 24 h electrocardiographic (ECG) recording.ResultsLeft- and right ventricular systolic function did not differ significantly between WD patients and controls. However, 5 of the 61 patients had a reduced left ventricular ejection fraction (LVEF). Furthermore, diastolic dysfunction was more prevalent in WD patients (9 of 61 vs. 0 of 61, p = 0.001).The severity of WD based on the Unified Wilson’s Disease Rating Scale was significantly correlated to NT-pro BNP (r = 0.34, P = 0.013). Patients with an exacerbation of WD in medical history had higher troponin levels compared to those without (11.3 ± 4.7 vs 4.6 ± 1.2).The autonomic function assessed by triangular index (TI) and SDNN-index was significantly reduced in WD patients compared to controls in most in almost every age category (p-value TI and SDNN: age 20–29, p < 0.001 and 0.05; age 30–39, p < 0.01 and not significant (ns); age 40–49, p < 0,01 and 0.001; age 50–59, p = ns and < 0.001, age 60–70, p < 0.05 and ns).ConclusionOur data demonstrate that cardiac involvement and autonomic dysfunction in WD is possible, however the underlying cause is still not known. We suggest that patients with signs and symptoms of structural heart disease should be examined by a cardiologist in addition to the interdisciplinary treatment team of WD.Electronic supplementary materialThe online version of this article (10.1186/s13023-019-1007-7) contains supplementary material, which is available to authorized users.
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.
Background Wilson's disease (WD) is an inherited autosomal recessive disorder resulting from abnormal copper metabolism. Relatively little is known about the effects of copper accumulation on the heart. Objective We aimed to determine if patients with Wilson's disease show signs of cardiac involvement and structural heart disease. Methods In this prospective trial, we studied 61 patients with Wilson's disease and compared them to 61 age- and gender-matched healthy controls. Results While left ventricular function assessed by global longitudinal and global radial strain did not differ significantly between the groups, Wilson's disease patients had significantly reduced global radial strain (table 1). Wilson's disease patients demonstrated significantly more late gadolinium enhancement than the control patients (4.9±1.4 vs. 1.1±0.2% p<0.001). The severity of Wilson's disease, based on the Unified Wilson's Disease Rating Scale, was significantly correlated with the extent of late gadolinium enhancement (r=0.53, P=0.001), cardiac troponin (r=0.56, P=0.001), the number of premature ventricular contraction (r=0.66, P=0.001). Table 1. Myocardial strain and CMR characteristics of patients and controls Parameter Patients (n=61) Controls (n=61) p value Left ventricular parameters GLS, % −22.8 (4.8) −21.8 (5.1) 0.124 GRS, % 43.2 (13.2) 51.6 (13.8) 0.002 GCS, % −29.2 (5.2) −28.6 (4.7) 0.534 Late gadolinium enhancement LGE, %* 4.9 (1.4) 1.1 (0.2) 0.003 LGE at RVIP, n (%) 58 (95) 3 (5) <0.001 Midwall LGE, n (%) 11 (18) 0 <0.001 Right ventricular parameters GLS, % −23.6 (4.9) −26.1 (5) 0.01 Data are presented as mean (SD), median (IQR)*, or n (%) unless otherwise stated. GLS, global longitudinal strain; GRS, global radial strain; GCS, global circular strain; LGE: late gadolinium enhancement; RIVP, right ventricular insertion point. Conclusion Our data demonstrate that cardiac involvement in Wilson's disease is possible and those patients who are severely affected by the disease carry a higher risk of developing structural heart disease.
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