Edston Erik, Perskvist Nasrin
Department of Forensic Medicine, Artillerigatan 12, 581 33, Linköping, Sweden.
Int J Legal Med. 2009 Jan;123(1):47-53. doi: 10.1007/s00414-008-0236-4. Epub 2008 Apr 30.
A case of sudden infant death with histiocytoid cardiomyopathy and ventricular non-compaction was investigated with immunohistochemical methods. Histiocytoid cardiomyopathy is thought to be a developmental defect of the cardiomyocytes of the conduction system. In contrast to mature cardiomyocytes, the histiocytoid cells showed only weak reactions to desmin and myosin antibodies. They lacked cross-striation but reacted strongly to enolase and myoglobin antibodies. The protein Pax-7, seen only in cells undergoing differentiation, and the proliferation marker Ki-67 were not expressed in the histiocytoid cells. In areas of altered myocardium, clusters of CD4-, CD8-, and CD68-positive inflammatory cells were seen as well an abundance of mast cells. With the TUNEL method, it was found that many of the histiocytoid cells were undergoing apoptosis. Our results confirm that the histiocytoid cells are defective cardiomyocytes. The apoptotic and inflammatory changes point to a degenerative process rather than defective maturation of cardiomyocytes as has been suggested in some earlier studies. Ventricular non-compaction is a developmental defect of the subendocardial tissue with hypertrabeculation and weak development of the papillary muscles. Only one case combined with histiocytoid cardiomyopathy has been described previously. A causal connection between the two conditions cannot be established until more cases have been analyzed.
采用免疫组织化学方法对1例伴有组织细胞样心肌病和心室肌致密化不全的婴儿猝死病例进行了研究。组织细胞样心肌病被认为是传导系统心肌细胞的一种发育缺陷。与成熟心肌细胞相比，组织细胞样细胞对结蛋白和肌球蛋白抗体仅表现出微弱反应。它们缺乏横纹，但对烯醇化酶和肌红蛋白抗体反应强烈。仅在正在分化的细胞中出现的蛋白质Pax-7以及增殖标志物Ki-67在组织细胞样细胞中未表达。在心肌改变的区域，可见CD4、CD8和CD68阳性炎症细胞簇以及大量肥大细胞。采用TUNEL法发现许多组织细胞样细胞正在发生凋亡。我们的结果证实组织细胞样细胞是有缺陷的心肌细胞。凋亡和炎症变化表明这是一个退行性过程，而非如一些早期研究所提示的心肌细胞成熟缺陷。心室肌致密化不全是心内膜下组织的一种发育缺陷，伴有肌小梁增粗和乳头肌发育不良。此前仅报道过1例合并组织细胞样心肌病的病例。在分析更多病例之前，无法确定这两种情况之间的因果关系。
