线粒体疾病的心血管表现
Cardiovascular Manifestations of Mitochondrial Disease.
作者信息
Duran Jason, Martinez Armando, Adler Eric
机构信息
Department of Cardiology, University of California San Diego Medical Center, La Jolla 92037, California, USA.
出版信息
Biology (Basel). 2019 May 11;8(2):34. doi: 10.3390/biology8020034.
Abstract
Genetic mitochondrial cardiomyopathies are uncommon causes of heart failure that may not be seen by most physicians. However, the prevalence of mitochondrial DNA mutations and somatic mutations affecting mitochondrial function are more common than previously thought. In this review, the pathogenesis of genetic mitochondrial disorders causing cardiovascular disease is reviewed. Treatment options are presently limited to mostly symptomatic support, but preclinical research is starting to reveal novel approaches that may lead to better and more targeted therapies in the future. With better understanding and clinician education, we hope to improve clinician recognition and diagnosis of these rare disorders in order to improve ongoing care of patients with these diseases and advance research towards discovering new therapeutic strategies to help treat these diseases.
摘要
遗传性线粒体心肌病是导致心力衰竭的罕见病因，大多数医生可能并不常见。然而，影响线粒体功能的线粒体DNA突变和体细胞突变的发生率比以前认为的更为普遍。在这篇综述中，对导致心血管疾病的遗传性线粒体疾病的发病机制进行了综述。目前的治疗选择大多限于对症支持，但临床前研究开始揭示一些新方法，这些方法可能会在未来带来更好、更有针对性的治疗。随着认识的加深和对临床医生的教育，我们希望提高临床医生对这些罕见疾病的识别和诊断能力，以改善对这些疾病患者的持续护理，并推动研究以发现新的治疗策略来帮助治疗这些疾病。
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