回顾性调查线粒体疾病患者的心脏病变

目的 分析线粒体疾病心脏受累的表现,提高对该病的认识.方法 回顾北京协和医院20年来诊断的90例线粒体疾病患者临床与病理资料,包括心电图、动态心电图和心脏超声检查.结果 90例线粒体疾病患者中合并心脏病变29例.其中合并心肌病变5例(5.6%),为左心室肥厚2例、心脏扩大伴心力衰竭3例;合并先天性结构性心脏病4例(4.4%),包括三尖瓣或(和)二尖瓣脱垂各1例,房间隔或室间隔缺损各1例;各种不同程度心律失常20例(22.2%),包括安装永久起搏器者4例(3例在安装起搏器后1～3年才诊断为线粒体疾病),多种心律失常包括室性心动过速1例,阵发性房性心动过速1例,无症状的心律失常14例(分别是右束支传导阻滞4例,右束支合并左前分支传导阻滞1例,短PR间期综合征5例,B型预激综合征2例,室内传导阻滞2例).心脏传导阻滞在Kearns-Sayre综合征(9例)中发生率高达66.7%.8例患者检出线粒体基因A3243G突变.结论 线粒体疾病可以心肌病、心力衰竭、恶性心律失常为首发表现,对青壮年心肌病、伴发严重的心脏传导阻滞应尽可能寻找病因包括进行相关基因检查.此外,对所有诊断为线粒体疾病患者需定期进行心电图和超声心动图等检查以便尽早发现异常及早处理以改善预后.

Cardiac manifestations of patients with mitochondrial disease

Objective To analyze the cardiac manifestations of mitochondriopathy patients. Methods We retrospectively analyzed the clinical (Electrocardiogram, Hoher monitoring, echocardiogram and laboratory examinations) and pathological data of 90 mitochondriopathy patients diagnosed within recent 20 years. The cardiac involvement data from these patients were summarized. Results Hypertrophic eardiomyopathy was found in 2 patients and dilated cardiomyopathy in 3 patients Mitochondriopathy diagnosis was made in 1 patient two years after heart transplantation due to heart failure resulting from previously diagnosed hypertrophic cardiomyopathy with noncompaction. The prevalence of cardiomyopathy is 5. 6% (5/90). The prevalence of various arrhythmias was 22. 2% (20/90). Four patients received permanent pacemaker because of Adams-Stokes attack or bradyarrhythmias ( mitochondriopathy diagnosis was made 1-3 years post pacemaker implantation in 3 cases). History of syncope, respiratory failure, RBBB, atrial fibrillation and episodic ventricular tachyarrhythmias were presented in 1 patient with mitochondriopathy, another mitochondriopathy patient developed atrial tachyarrhythmias. Arrhythmia were present in 14 mitochondriopathy patients including RBBB, bifascicularblock, intraventricularblock, Wolff-Parkinson-White syndrome and short PR interval syndrome. The mtDNA 3243A-G mutation was detected in 8 patients. Conclusions Incidence of cardiomyopathy, heart failure and severe arrhythmias is high in patients with mitochondriopathy. Therefore, young cardiomyopathy patients with severe conduction block disorders should undergo relevant etiologic and genetic screening for mitochondriopathy and patients with diagnosed mitochondriopathy should regularly receive electrocardiogram and echocardiography examinations for possible cardiac involvement.