Antozzi C, Zeviani M
Neuromuscular Research Department, Istituto Nazionale Neurologico Carlo Besta, Milan, Italy.
Cardiovasc Res. 1997 Aug;35(2):184-99. doi: 10.1016/s0008-6363(97)00141-7.
Primary cardiomyopathy is an important cause of mortality in children and adults. Apart from inherited disorders of myocardial contractile and structural proteins, several defects of energy metabolism may cause cardiomyopathy. Most of the energy required for myocardial contraction is derived from aerobic metabolism. Faulty aerobic metabolism involving the heart may be due to defects of mitochondrial oxidative phosphorylation or to defects of fatty acid oxidation. Considerable advances have been made in the last 10 years in understanding the biochemical and molecular characteristics of mitochondrial disorders. Several point mutations or large-scale re-arrangements of mitochondrial DNA have been identified in patients with cardiomyopathy, either as part of complex multisystem syndromes or as the main clinical feature. Inborn errors of fatty acid oxidation are reported with increasing frequency as a cause of metabolic dysfunction, myopathy, cardiomyopathy, and sudden death in childhood. Advances in biochemical and molecular genetic techniques have considerably improved our understanding of the metabolic disorders causing cardiomyopathy, providing new tools for classification and diagnosis of candidate patients. The present review focuses on defects of mitochondrial oxidative metabolism associated with cardiomyopathy.
原发性心肌病是儿童和成人死亡的重要原因。除了心肌收缩和结构蛋白的遗传性疾病外，能量代谢的几种缺陷也可能导致心肌病。心肌收缩所需的大部分能量来自有氧代谢。涉及心脏的有氧代谢异常可能是由于线粒体氧化磷酸化缺陷或脂肪酸氧化缺陷。在过去10年里，在了解线粒体疾病的生化和分子特征方面取得了相当大的进展。在心肌病患者中已经鉴定出线粒体DNA的几种点突变或大规模重排，它们要么是复杂多系统综合征的一部分，要么是主要临床特征。脂肪酸氧化的先天性缺陷作为儿童代谢功能障碍、肌病、心肌病和猝死的原因，报告频率越来越高。生化和分子遗传技术的进步极大地提高了我们对导致心肌病的代谢紊乱的理解，为候选患者的分类和诊断提供了新工具。本综述重点关注与心肌病相关的线粒体氧化代谢缺陷。
