Tsujita Yasuyuki, Kunitomo Takeo, Fujii Masanori, Furukawa Satoshi, Otsuki Hideki, Fujino Kazunori, Hamamoto Tetsu, Tabata Takahisa, Matsumura Kazuhiro, Sasaki Teiji, Saotome Takao, Kawai Hiromichi, Matsumoto Tetsuya, Maeda Kengo, Horie Minoru, Eguchi Yutaka
Int J Cardiol. 2008 Aug 1;128(1):e43-5. doi: 10.1016/j.ijcard.2007.05.072. Epub 2007 Aug 8.
A 49-year-old female cardiomyopathic patient with heart, hepatic, and renal failure and lactic acidosis was transferred to the intensive care unit without a unifying diagnosis. She was of short stature (145 cm tall), had difficulty in hearing, a past history of complete atrioventricular block, and had received a permanent pacemaker. She had been diagnosed and treated as dilated cardiomyopathy by her primary doctor. Treatment in the intensive care unit for 21 days including plasma exchange, continuous hemodiafiltration, artificial ventilation, and administration of catecholamine, carperitide, and a large amount of coenzyme Q10 (210 mg/day) improved the symptoms. Genetic analysis using mitochondrial DNA from leukocytes and sternocleidomastoid muscle revealed a 3243A>G mutation in the mitochondrial tRNA(Leu (UUR)) gene, which is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). The patient recovered through intensive care and could be discharged from hospital without any sequelae. This case was mitochondrial cardiomyopathy diagnosed from the symptoms of multiple organ dysfunction syndrome. Cardiomyopathy due to the mutation of mitochondrial DNA is not a common disease. However, it should be considered as a possible cause of heart failure.
一名49岁患有心肌病、伴有心、肝、肾衰竭及乳酸酸中毒的女性患者被转入重症监护病房,当时诊断尚不明确。她身材矮小(身高145厘米),听力有障碍,有完全性房室传导阻滞病史,已植入永久性起搏器。其首诊医生曾将其诊断为扩张型心肌病并进行治疗。在重症监护病房接受了21天的治疗,包括血浆置换、持续血液透析滤过、人工通气以及给予儿茶酚胺、卡培立肽和大量辅酶Q10(210毫克/天)后,症状有所改善。利用白细胞和胸锁乳突肌的线粒体DNA进行基因分析,发现线粒体tRNA(Leu(UUR))基因存在3243A>G突变,该突变与线粒体肌病、脑病、乳酸酸中毒和卒中样发作(MELAS)相关。患者经重症监护后康复,出院时无任何后遗症。该病例是从多器官功能障碍综合征症状诊断出的线粒体心肌病。线粒体DNA突变所致的心肌病并不常见。然而,应将其视为心力衰竭的一种可能病因。