Buksińska-Lisik Małgorzata, Litwin Tomasz, Pasierski Tomasz, Członkowska Anna
2 Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
3 Department of Internal Medicine and Cardiology, Medical University of Warsaw, Miedzyleski Szpital Specjalistyczny, Warsaw, Poland.
Arch Med Sci. 2019 Jul;15(4):857-864. doi: 10.5114/aoms.2017.69728. Epub 2017 Sep 7.
Wilson's disease (WD) is a rare genetic disorder that leads to impairments in copper metabolism. Patients principally exhibit liver and neuropsychiatric symptoms, but because copper also accumulates in all body organs, other (typically milder) clinical symptoms can occur. To date, cardiac involvement has not been thoroughly investigated in patients with WD. This study aimed to evaluate heart structure and function in patients with WD with commonly available diagnostic methods.
We compared 125 WD patients with an age- and sex-matched control group. Patients with WD were grouped according to their dominant symptoms - neurologic or hepatic. All subjects underwent clinical, electrocardiographic (ECG), and echocardiographic examinations.
All subjects had sinus rhythm on electrocardiography. The only ECG parameter that differed between patients with WD and the control group was the QRS prolongation (92.0 vs. 86.4 ms; < 0.05). On echocardiography patients with WD exhibited more hypertrophy in the left ventricle than controls (posterior wall in diastole: 1.0 vs. 0.93; < 0.01) and the left ventricle hypertrophy was more pronounced in the neurologic than in the hepatic subgroup (1.05 vs. 0.96 cm; < 0.01). Left ventricular systolic function was similar in the WD and the control group (ejection fraction: 67.5% vs. 67.7%). On tissue Doppler echocardiography patients with WD demonstrated slowing of myocardial relaxation, which was more evident in the neurologic group.
Heart involvement in WD was manifested mainly by mild left ventricular hypertrophy and subclinical changes in diastolic function, particularly in the patients with the neurologic form of disease.
威尔逊病（WD）是一种罕见的遗传性疾病，会导致铜代谢受损。患者主要表现出肝脏和神经精神症状，但由于铜也会在全身各器官中蓄积，所以可能会出现其他（通常较为轻微）的临床症状。迄今为止，尚未对WD患者的心脏受累情况进行全面研究。本研究旨在采用常用诊断方法评估WD患者的心脏结构和功能。
我们将125例WD患者与年龄和性别匹配的对照组进行了比较。WD患者根据其主要症状（神经症状或肝脏症状）进行分组。所有受试者均接受了临床、心电图（ECG）和超声心动图检查。
所有受试者心电图均显示窦性心律。WD患者与对照组之间唯一不同的心电图参数是QRS波增宽（92.0对86.4毫秒；<0.05）。超声心动图显示，WD患者左心室肥厚程度高于对照组（舒张末期后壁厚度：1.0对0.93厘米；<0.01），且神经症状亚组的左心室肥厚比肝脏症状亚组更明显（1.05对0.96厘米；<0.01）。WD组和对照组的左心室收缩功能相似（射血分数：67.5%对67.7%）。组织多普勒超声心动图显示，WD患者心肌舒张减慢，在神经症状组更为明显。
WD患者的心脏受累主要表现为轻度左心室肥厚和舒张功能的亚临床改变，尤其是神经症状型患者。
