Factor S M, Cho S, Sternlieb I, Scheinberg I H, Goldfischer S
Virchows Arch A Pathol Anat Histol. 1982;397(3):301-11. doi: 10.1007/BF00496571.
Though myocardial alterations are well recognized in haemochromatosis, little attention has been paid to the cardiac changes in Wilson's disease. To define the extent of myocardial degeneration in newly diagnosed or chronically treated Wilson's disease, we reviewed the autopsy findings in 9 cases with this condition. We compared our observations with those in 3 control cases, selected for comparable age and with liver disease having no known association with cardiac degeneration. Our results revealed cardiac hypertrophy in 5 out of 9 cases of Wilson's disease. There was evidence of interstitial and replacement fibrosis, intramyocardial small vessel sclerosis and focal inflammatory cell inflammation to a variable degree in all cases. One case had AV nodal degeneration, and a 15 year old boy had severe atherosclerosis of the left main coronary artery. Two patients died suddenly, presumably secondary to an arrhythmia; one of these patients had the most marked myocardial alterations. We could not correlate these changes specifically with the tissue levels of copper, treatment with D-penicillamine, or the presence of cirrhosis. We conclude that there are definite morphological abnormalities in the hearts of patients with Wilson's disease consistent with a cardiomyopathy. Though the myocardial changes were non-specific, the fact that 2 patients died suddenly, suggests the need for a prospective study of cardiac function in these patients in the future.
尽管血色素沉着症中心肌改变已得到充分认识，但威尔逊病的心脏变化却很少受到关注。为了明确新诊断或长期治疗的威尔逊病中心肌变性的程度，我们回顾了9例该病患者的尸检结果。我们将观察结果与3例对照病例进行了比较，这些对照病例年龄相仿且患有与心脏变性无已知关联的肝病。我们的结果显示，9例威尔逊病患者中有5例出现心脏肥大。所有病例均有不同程度的间质和替代性纤维化、心肌内小血管硬化以及局灶性炎症细胞炎症。1例有房室结变性，1名15岁男孩有左主冠状动脉严重动脉粥样硬化。2例患者突然死亡，推测继发于心律失常；其中1例患者心肌改变最为明显。我们无法将这些变化与铜的组织水平、青霉胺治疗或肝硬化的存在具体关联起来。我们得出结论，威尔逊病患者的心脏存在明确的形态学异常，符合心肌病表现。尽管心肌变化是非特异性的，但2例患者突然死亡这一事实表明，未来需要对这些患者的心脏功能进行前瞻性研究。
