高危患者的严重心脏不良事件的线粒体。3243 G >突变

目的:确定长期的心脏威胁生命的并发症发生率和死亡患者的m。3243 > G变异,确定心脏预后因素。

方法:我们回顾性包括病人携带的m。3243 G >突变who were admitted to the Neuromuscular Disease Clinic of Pitié Salpêtrière Hospital between January 1992 and December 2010. We collected information relative to their yearly neurologic and cardiac investigations, their mutation load in blood, urine, and muscle at initial admission, and the occurrence of cardiac life-threatening adverse events and death during follow-up.

结果:41例(年龄中位数= 47年[36-55年],男人= 13)都包括,其中38了线粒体encephalomyopathy的临床表现,乳酸酸中毒,类似中风发作(看见)和3是无症状的。一个病人有一个人心脏移植的历史。心脏调查显示左心室肥大,左心室功能障碍,或者两者都异常18例,连同Wolff-Parkinson-White综合症7,传导系统疾病4,心房纤维性颤动在1。在一个平均5年(3 - 9年)随访期间,11个患者死亡,其中包括3由于心脏衰竭;7有危及生命的不良事件,包括6住院治疗严重的心力衰竭和心脏骤停复苏。通过多变量分析,左心室肥大是唯一独立参数与心脏不良事件的发生有关。

结论:患者的m。3243 G >突变have a high incidence of cardiac death and life-threatening adverse events. Left ventricular hypertrophy was the only parameter independently associated with occurrence of these events.