Behjati Mohaddeseh, Sabri Mohammad Reza, Etemadi Far Masood, Nejati Majid
Echocardiography Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
Pediatric Cardiovascular Research Center, Cardiovascular Research Institute, Isfahan University of Medical Sciences, Isfahan, Iran.
Heart Fail Rev. 2021 Mar;26(2):391-403. doi: 10.1007/s10741-020-10009-1.
Maternally mitochondrial dysfunction includes a heterogeneous group of genetic disorders which leads to the impairment of the final common pathway of energy metabolism. Coronary heart disease and coronary venous disease are two important clinical manifestations of mitochondrial dysfunction due to abnormality in the setting of underlying pathways. Mitochondrial dysfunction can lead to cardiomyopathy, which is involved in the onset of acute cardiac and pulmonary failure. Mitochondrial diseases present other cardiac manifestations such as left ventricular noncompaction and cardiac conduction disease. Different clinical findings from mitochondrial dysfunction originate from different mtDNA mutations, and this variety of clinical symptoms poses a diagnostic challenge for cardiologists. Heart transplantation may be a good treatment, but it is not always possible, and other complications of the disease, such as mitochondrial encephalopathy, lactic acidosis, and stroke-like syndrome, should be considered. To diagnose and treat most mitochondrial disorders, careful cardiac, neurological, and molecular studies are needed. In this study, we looked at molecular genetics of MIDs and cardiac manifestations in patients with mitochondrial dysfunction.
母系线粒体功能障碍包括一组异质性的遗传疾病,这些疾病会导致能量代谢最终共同途径的受损。冠心病和冠状静脉疾病是由于潜在途径异常导致线粒体功能障碍的两个重要临床表现。线粒体功能障碍可导致心肌病,这与急性心功能和肺功能衰竭的发病有关。线粒体疾病还表现出其他心脏症状,如左心室心肌致密化不全和心脏传导疾病。线粒体功能障碍的不同临床发现源于不同的线粒体DNA突变,这种多样的临床症状给心脏病专家带来了诊断挑战。心脏移植可能是一种有效的治疗方法,但并非总是可行,还应考虑该疾病的其他并发症,如线粒体脑病、乳酸性酸中毒和类卒中综合征。为了诊断和治疗大多数线粒体疾病,需要进行仔细的心脏、神经和分子研究。在本研究中,我们观察了线粒体功能障碍患者线粒体疾病的分子遗传学和心脏表现。