Cristofari M, Bertocchi P, Viganò M
Divisione di Medicina-Cardiologia, Ospedale di Desio, MI.
G Ital Cardiol. 1995 Jan;25(1):69-76.
We describe a case of a 34-year-old male patient first hospitalized in February '93 for stroke (concomitant dilated-hypertrophic cardiomyopathy was noted), and then in April '93 for congestive heart failure. The presence of myopathy, encephalopathy, lactic acidosis and stroke episode allows for the diagnosis of MELAS syndrome, proven by a specific point mutation in mitochondrial DNA. In this case we were able to observe not only the electrocardiographic and echocardiographic features of hypertrophic cardiomyopathy, previously described in mitochondrial encephalomyopathies, but we were also able to monitor the rapid evolution of this cardiomyopathy towards the hypokinetic dilated form with severe impairment of systolic function; this transition was due to changes in the heart anatomy and structure with reduction in the left ventricular (LV) wall thickness and dilatation of all chambers. The remodeling of LV geometry seems to be not definite and capable of dynamic evolution, as suggested by clinical and echocardiographic findings evaluated six months after the hospitalization. In this patient, we obtained a mid-term favourable clinical outcome using inotropic drugs and Ubiquinone (coenzyme Q), an intermediate substrate of the energetic metabolism, which seems to be poorly synthetized because of the early enzymatic defects in the mitochondrial respiratory chain.
我们描述了一例34岁男性患者，该患者于1993年2月因中风首次住院（当时发现伴有扩张型肥厚性心肌病），并于1993年4月因充血性心力衰竭再次住院。患者存在肌病、脑病、乳酸酸中毒和中风发作，据此诊断为线粒体脑肌病伴乳酸血症和卒中样发作（MELAS）综合征，线粒体DNA的特定点突变证实了该诊断。在该病例中，我们不仅观察到了线粒体脑肌病中先前已描述的肥厚性心肌病的心电图和超声心动图特征，还监测到了这种心肌病迅速演变为收缩功能严重受损的运动功能减退型扩张型心肌病；这种转变是由于心脏解剖结构的改变，左心室壁厚度变薄，所有心腔扩张。住院六个月后评估的临床和超声心动图结果表明，左心室几何形状的重塑似乎并不确定，且具有动态演变的能力。在该患者中，我们使用正性肌力药物和泛醌（辅酶Q）（能量代谢的中间底物，由于线粒体呼吸链早期酶缺陷，其合成似乎不足）获得了中期良好的临床结果。
