P5267Cardiac tissue characterization in patients with wilsons disease using magnetic resonance imaging

Abstract

Introduction Wilson's disease (WD) is a rare autosomal recessive copper disorder with limited excretion of excess copper into the bile. Primary symptoms are hepatic or neurological. However, the clinical range of WD is wide and can result in cardiac symptoms as well. Previous studies revealed a higher incidence of heart failure in WD patients compared to the rest of the population. Purpose Cardiac magnetic resonance imaging (CMR) is used to identify the typical features of several systemic disorders with excessive myocardial deposition of substrates. The aim of this study was to perform a cardiac tissue characterization in WD patients by using CMR and to identify subgroups of WD patients with reduced ejection fraction (EF). Methods Patients with known WD using Ferenci-Score were included in this prospective study. WD patients were referred to 1.5 Tesla CMR. The following CMR protocol was performed; Cine-images, T1-, T2- and T2*-Mapping, fast-SENC strain and late gadolinium enhancement (LGE). Fast-SENC strain measurements were compared with values from healthy individuals scanned at the center. Results 43 patients (age 38.7±12.8 years, 20 female, BMI 23.80 (17.4–33.1)) with WD could be identified and were evaluated with CMR. CMR revealed normal left ventricular (LV) EF (62.4±5.4%) and right ventricular (RV) EF (64.4±7.1%) overall. However, three patients (7%), who suffered primarily from neurological symptoms, were found to have mildly reduced LV-EF (46.5%, 51%, and 53.5%). Strain analysis revealed significantly reduced LV global circumferential strain (GCS) overall compared to healthy individuals (WD (%): −19.2 2.7; control (%): −20.71±1.5, p<0.05). Patients with primarily hepatic symptoms (WD-h) did not show reduced strain measurements compared to the control group. Patients suffering from primarily neurological symptoms (WD-n) showed significantly reduced LV GCS compared to healthy individuals (WD-n (%): −18.3±3.1; control (%): −20.7±1.5, p<0.05) and RV GCS (WD-n (%): −17.5±3.0; control (%): −19.2±1.8, p<0.05). Also, LV GCS in WD-n was significantly reduced compared to WD-h (WD-n (%): −18.3±3.1; WD-h (%): −20.0±2.0). Furthermore, there were no significant differences between the two subgroups, besides a significant thicker lateral wall in patients with WD-n (WD-n (mm): 7 (5–9); WD-h (mm): 6 (5–8), p<0.05). T1-, T2- and T2*-Mapping did not show any pathological pattern and were overall in the normal range (T1: 1020±30ms; T2: 52.9±3.0ms; T2*: 38.4±5.6ms). Epicardial LGE was present in 1 patient. Conclusion Cardiac tissue characterization was performed in WD patients using CMR. Reduced EF, LV and RV GCS have been detected in patients with primarily neurological symptoms. Cardiovascular autonomic dysfunction in this subgroup could be a reason for the reduced biventricular strain. It is unknown if reduced circumferential strain influences the prognosis of WD patients, which should be investigated in further studies.