Moolman-Smook Johanna C, Mayosi Bongani M, Brink Paul A, Corfield Valerie A
US/MRC for Molecular and Cellular Biology, Faculty of Health Science, University of Stellenbosch, Tygerburg, South Africa.
Cardiovasc J S Afr. 2003 May-Jun;14(3):145-55.
Congestive heart failure is a major problem in developed and developing countries alike. Primary dysfunction of the heart muscle accounts for a significant proportion of patients with a non-ischaemic cause of heart failure. Application of genetic techniques has facilitated identification of some molecular causes of the inherited form of these diseases, dramatically increasing our understanding of the pathogenesis of these primary, previously termed 'idiopathic', cardiomyopathies over the last few decades. Knowledge of the different causes is beginning to coalesce into aetiological principles underlying the clinically distinguished cardiomyopathies. Hypertrophic cardiomyopathy (HCM) now appears to be a disease caused by a dysfunctional sarcomere, dilated cardiomyopathy (DCM), a disease of myocytic structural instability, and arrhythmogenic right ventricular cardiomyopathy, a disease of accelerated myocyte death. The aetiology of both HCM and DCM probably also involves cardiac energy imbalances, while additional factors modify the clinical expression in all cardiomyopathies. Even though our knowledge of the genetic aetiology of the cardiomyopathies is still incomplete, it already has relevant clinical significance. Elucidation of the full genetic contribution to the development and progression of the cardiomyopathies represents a new challenge in the study of these diseases, and will undoubtedly lead to new therapeutic approaches in the not-too-distant future.
充血性心力衰竭在发达国家和发展中国家都是一个主要问题。心肌的原发性功能障碍在非缺血性心力衰竭病因的患者中占很大比例。在过去几十年里，基因技术的应用促进了对这些疾病遗传形式的一些分子病因的识别，极大地增进了我们对这些原发性（以前称为“特发性”）心肌病发病机制的理解。对不同病因的认识开始融合为临床上可区分的心肌病背后的病因学原理。肥厚型心肌病（HCM）现在似乎是一种由肌节功能障碍引起的疾病，扩张型心肌病（DCM）是一种心肌细胞结构不稳定的疾病，致心律失常性右室心肌病是一种心肌细胞加速死亡的疾病。HCM和DCM的病因可能还涉及心脏能量失衡，而其他因素会改变所有心肌病的临床表现。尽管我们对心肌病遗传病因的了解仍然不完整，但它已经具有相关的临床意义。阐明基因对心肌病发生和发展的全部贡献是这些疾病研究中的一个新挑战，而且无疑将在不久的将来带来新的治疗方法。
