60例肝豆状核变性患者心脏受累表现分析

摘要/Abstract

摘要： 目的分析60例肝豆状核变性患者心脏受累表现。方法对2018年1月—2022年12月黄河三门峡医院诊治的60例肝豆状核变性患者进行回顾性分析,收集患者临床资料,采用12导联心电图检查,异常者采用彩色多普勒超声诊断仪进行超声心动图检查,并以化学发光法、双抗夹心免疫荧光法检测血清心脏标志物。结果 60例肝豆状核变性患者以肝脏表现为首发症状,ALT[(43.7±6.8)U/L]、AST[(46.5±7.6)U/L]、GGT[(65.7±8.3)U/L]、TBil[(36.9±4.1)μmol/L]及24 h尿铜[(655.3±140.9)μg/d]水平均明显升高,而铜蓝蛋白[(73.5±9.2)mg/L]、血清铜[(5.8±0.6)μmol/L]水平则显著降低。60例肝豆状核变性患者中有18例心脏受累,心房早搏、QRS复合波宽度增加各4例(22.2%),T波倒置、ST段改变、房室传导阻滞各2例(11.1%),室性心动过速、P波倒置、窦性心动过缓及窦性心动过缓与T波倒置并存各1例(5.6%)。左心室舒张末期内径[(47.5±7.6)mm]、左心室射血分数[(69.2±8.8)%]、E/A(1.9±0.2)水平偏高。肝豆状核变性患者心脏受累时,cTnI[(1.4±0.1)ng/mL]、NT-proBNP[(693.5±162.7)pg/mL]水平明显升高。结论心脏受累在肝豆状核变性患者中较为常见,出现心脏结构和功能改变,利用影像学、实验室检查可进行评估。

关键词: 肝豆状核变性, 心脏受累, 心电图, 超声心动图, 心脏标志物

Abstract: Objective To analyze the manifestations of cardiac involvement in 60 patients with hepatolenticular degeneration. Methods Between January 2018 and December 2022, 60 patients with hepatolenticular degeneration were diagnosed and treated in Yellow River Sanmenxia Hospital. Clinical data of the patients were collected, and a 12 lead electrocardiogram was used for examination. Abnormal cases were examined using a color Doppler ultrasound diagnostic instrument for echocardiography, and serum cardiac markers were detected using chemiluminescence and double antibody sandwich immunofluorescence methods. Results 60 patients with hepatolenticular degeneration had liver manifestations as the first symptom, with alanine aminotransferase [(43.7 ± 6.8) U/L], aspartate aminotransferase [(46.5 ± 7.6) U/L], γ- Glutamic transferase [(65.7 ± 8.3) U/L], total bilirubin [(36.9 ± 4.1) μ mol/L] and 24-hour urine copper [(655.3 ± 140.9) μg/d] were significantly increased, while the levels of ceruloplasmin [(73.5 ± 9.2) mg/L] and serum copper [(5.8 ± 0.6) μ mol/L] significantly decreased. Among the 60 patients with hepatolenticular degeneration, 18 had cardiac involvement, with 4 cases of atrial premature beats and 4 cases of increased QRS complex wave width (22.2%), 2 cases of T-wave inversion, ST segment changes, and atrioventricular block (11.1%), and 1 case of ventricular tachycardia, P-wave inversion, sinus bradycardia, and coexistence of sinus bradycardia and T-wave inversion (5.6%). The left ventricular end diastolic diameter [(47.5 ± 7.6) mm], left ventricular ejection fraction [(69.2 ± 8.8)%], and E/A (1.9 ± 0.2) levels are relatively high. When the heart is affected in patients with hepatolenticular degeneration, serum levels of troponin I (cTnI) [(1.4 ± 0.1) ng/mL] and N-terminal B-type natriuretic peptide (NT proBNP) [(693.5 ± 162.7) pg/mL] significantly increase. Conclusion Heart involvement is more common in patients with Wilson's disease, with changes in cardiac structure and function that can be evaluated using imaging and laboratory examinations.

Key words: Hepatolenticular degeneration, Heart involvement, Electrocardiogram, Echocardiography, Heart biomarkers

常丽莉, 刘成, 郑勃. 60例肝豆状核变性患者心脏受累表现分析[J]. 肝脏, 2025, 30(5): 731-733.

CHANG Li-li, LIU Cheng, ZHENG Bo. Analysis of cardiac involvement in 60 patients with hepatolenticular degeneration[J]. Chinese Hepatolgy, 2025, 30(5): 731-733.

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参考文献

[1] 玛力帕提·艾尔肯江, 凯迪日亚·库尔班, 徐玲,孙晓风等. 肝豆状核变性发病机制、临床表型-基因型关系及药物治疗研究进展[J]. 临床肝胆病杂志, 2023, 39(6): 1497-1504.
[2] Schilsky M L, Roberts E A, Bronstein J M, et al. A multidisciplinary approach to the diagnosis and management of wilson disease: executive summary of the 2022 practice guidance on wilson disease from the American association for the study of liver diseases[J]. Hepatology, 2023, 77(4): 1428-1455.
[3] Zhang S, Liu H, Amarsingh GV, et al. Restoration of myocellular copper-trafficking proteins and mitochondrial copper enzymes repairs cardiac function in rats with diabetes-evoked heart failure[J]. Metallomics, 2020, 12(2): 259-272.
[4] Janse van Rensburg M, Bester M J, Van Rooy M J, et al. Adverse effects of copper, manganese and mercury, alone and in mixtures on the aorta and heart of Spraque-Dawley rats[J]. Toxicol Ind Health, 2023, 39(8): 421-440.
[5] 张杰, 邓炜, 喻绪恩, 等. 心脏磁共振在评估肝豆状核变性心肌受累中的应用[J]. 中国医学影像学杂志, 2022, 30(11): 1125-1129,1142.
[6] Wang C, Gao H, Sun J, et al. Cardiac involvement in wilson′s disease: a retrospective cohort study[J]. Eur J Gastroenterol Hepatol, 2022, 34(11): 1147-1150.
[7] 中华医学会肝病学分会遗传代谢性肝病协作组. 肝豆状核变性诊疗指南(2022年版)[J]. 中华肝脏病杂志, 2022, 30(1): 9-20.
[8] 陈宏, 张娟, 王云宝, 等. 补肾活血化浊中药联合驱铜治疗对肝豆状核变性患者血清学、尿铜指标、精神神经症状、中医证型变化与疗程关系的影响[J]. 辽宁中医杂志, 2020, 47(1): 86-89.
[9] Del Castillo Busto M E, Cuello-Nunez S, Ward-Deitrich C, et al. A fit-for-purpose copper speciation method for the determination of exchangeable copper relevant to Wilson's disease[J]. Anal Bioanal Chem, 2022, 414(1): 561-573.
[10] Schilsky M L, Czlonkowska A, Zuin M, et al. Trientine tetrahydrochloride versus penicillamine for maintenance therapy in wilson disease (CHELATE): a randomised, open-label, non-inferiority, phase 3 trial[J]. Lancet Gastroenterol Hepatol, 2022, 7(12): 1092-1102.
[11] Polishchuk E V, Merolla A, Lichtmannegger J, et al. Activation of autophagy, observed in liver tissues from patients with wilson disease and from ATP7B-deficient animals, protects hepatocytes from copper-induced apoptosis[J]. Gastroenterology, 2019, 156(4): 1173-1189.
[12] Bobbio E, Forsgard N, Oldfors A, et al. Cardiac arrest in wilson′s disease after curative liver transplantation: a life-threatening complication of myocardial copper excess?[J]. ESC Heart Fail, 2019, 6(1): 228-231.
[13] Dourakis S P, Geladari E, Geladari C, et al. Cirrhotic cardiomyopathy: the interplay between liver and cardiac muscle. How does the cardiovascular system react when the liver is diseased?[J]. Curr Cardiol Rev, 2021, 17(1): 78-84.
[14] Kajal K, Premkumar M, Izzy M, et al. Cirrhotic cardiomyopathy influences clinical outcomes and enhances performance of conventional risk prediction models in acute-on-chronic liver failure with severe sepsis[J]. Aliment Pharmacol Ther, 2023, 58(9): 903-919.
[15] Hegyesi H, Pallinger É, Mecsei S, et al. Circulating cardiomyocyte-derived extracellular vesicles reflect cardiac injury during systemic inflammatory response syndrome in mice[J]. Cell Mol Life Sci, 2022, 79(2): 84.
[16] Li J, Wang L, Liu H, et al. Analysis of the value of N-terminal pro-B-type natriuretic peptide (NT-proBNP) and other parameters related to right heart function in detecting acute radiation-induced right heart injury[J]. Ann Palliat Med, 2021, 10(6): 6455-6466.
[17] Fang S, Yang W, Zhang K, et al. Gandouling mitigates CuSO4-induced heart injury in rats[J]. Animals (Basel), 2022, 12(19): 2703.