Brunel-Guitton Catherine, Levtova Alina, Sasarman Florin
Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.
Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, Quebec, Canada.
Can J Cardiol. 2015 Nov;31(11):1360-76. doi: 10.1016/j.cjca.2015.08.017. Epub 2015 Aug 28.
Mitochondrial cardiomyopathies are clinically and genetically heterogeneous. An integrative approach encompassing clinical, biochemical, and molecular investigations is required to reach a specific diagnosis. In this review we summarize the clinical and genetic aspects of mitochondrial disorders associated with cardiomyopathy, including disorders of oxidative phosphorylation. It also describes groups of disorders that, although not usually classified as mitochondrial disorders, stem from defects in mitochondrial function (eg, disorders of β-oxidation and the carnitine cycle), are associated with secondary mitochondrial impairment (eg, organic acidurias), and are important diagnostically because they are treatable. Current biochemical and molecular techniques for the diagnosis of mitochondrial cardiomyopathies are described, and a diagnostic algorithm is proposed, to help clinicians in their approach to cardiomyopathies in the context of mitochondrial diseases.
线粒体心肌病在临床和遗传方面具有异质性。需要采用综合方法，包括临床、生化和分子研究，才能做出明确诊断。在本综述中，我们总结了与心肌病相关的线粒体疾病的临床和遗传方面，包括氧化磷酸化障碍。本文还描述了一些疾病组，这些疾病虽然通常不被归类为线粒体疾病，但源于线粒体功能缺陷（如β-氧化和肉碱循环障碍），与继发性线粒体损伤（如有机酸尿症）相关，并且由于可治疗而在诊断上很重要。文中描述了目前用于诊断线粒体心肌病的生化和分子技术，并提出了一种诊断算法，以帮助临床医生在面对线粒体疾病背景下的心肌病时做出诊断。
