Cardiac complications in inherited mitochondrial diseases
Cardiac complications in inherited mitochondrial diseases
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DOI：
10.1007/s10741-020-10009-1
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发表时间：
2020-07-29
影响因子：
4.6
通讯作者：
Nejati, Majid
中科院分区：
文献类型：
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作者：
Behjati, Mohaddeseh;Sabri, Mohammad Reza;Nejati, Majid
母体线粒体功能障碍包括一组异质性的遗传障碍，导致最终共同的能量代谢途径受损。冠心病和冠状静脉疾病是线粒体功能障碍的两种重要临床表现，其原因是潜在通路的异常。线粒体功能障碍可导致心肌病，这与急性心肺衰竭的发生有关。线粒体疾病还包括其他心脏表现，如左心室致密化不全和心脏传导疾病。线粒体功能障碍的不同临床表现源于不同的mtDNA突变，这种不同的临床症状对心脏病医生的诊断提出了挑战。心脏移植可能是一种很好的治疗方法，但并不总是可能的，应该考虑这种疾病的其他并发症，如线粒体脑病、乳酸酸中毒和卒中样综合征。要诊断和治疗大多数线粒体疾病，需要仔细的心脏、神经和分子研究。在这项研究中，我们观察了MIDs的分子遗传学和线粒体功能障碍患者的心脏表现。
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.