Berardo A, Musumeci O, Toscano A
Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Italy.
Acta Myol. 2011 Jun;30(1):9-15.
Mitochondrial Respiratory Chain Disorders (MRCD) are a heterogeneous group of disorders that share the involvement of the cellular bioenergetic machinery due to molecular defects affecting the mitochondrial oxidative phosphorylation system (OXPHOS). Clinically, they usually involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle. Cardiological manifestations are frequent and include hypertrophic or dilated cardiomyopathies and heart conduction defects, being part of adult or infantile multisystemic mitochondrial disorders or, less frequently, presenting as isolated clinical condition. The aim of this review is to update the cardiological manifestations in both adult and infantile mitochondrial disorders going briefly over mitochondrial genetics. Cardiac involvement is a common feature associated with early and late onset forms of MRCD. In particular cases, these conditions should be considered into the diagnostic algorithm of idiopathic cardiomyopathies. Physicians strictly related with this disorders need to be aware of heart complications and therefore periodical cardiological examinations should be performed in such patients. Finally, therapeutic strategies are suggested to treat cardiac disorders in MRCD
线粒体呼吸链疾病（MRCD）是一组异质性疾病，由于影响线粒体氧化磷酸化系统（OXPHOS）的分子缺陷，这些疾病都涉及细胞生物能量机制。临床上，它们通常累及多个组织，尽管主要倾向于影响神经系统和骨骼肌。心脏表现很常见，包括肥厚型或扩张型心肌病以及心脏传导缺陷，是成人或婴儿多系统线粒体疾病的一部分，或者较少见地表现为孤立的临床病症。本综述的目的是更新成人和婴儿线粒体疾病的心脏表现，并简要介绍线粒体遗传学。心脏受累是MRCD早发和晚发形式的共同特征。在特定情况下，这些病症应纳入特发性心肌病的诊断流程。与这些疾病密切相关的医生需要了解心脏并发症，因此应对此类患者进行定期心脏检查。最后，建议了治疗MRCD心脏疾病的策略
