Yin Lixue
Cardiovascular Ultrasound and Non-Invasive Cardiology Department, Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital, Sichuan, China.
J Cardiovasc Ultrasound. 2014 Dec;22(4):165-72. doi: 10.4250/jcu.2014.22.4.165. Epub 2014 Dec 26.
Ventricular myocardial non-compaction has been recognized and defined as a genetic cardiomyopathy by American Heart Association since 2006. The argument on the nomenclature and pathogenesis of this kind of ventricular myocardial non-compaction characterized by regional ventricular wall thickening and deep trabecular recesses often complicated with chronic heart failure, arrhythmia and thromboembolism and usually overlap the genetics and phenotypes of other kind of genetic or mixed cardiomyopathy still exist. The proper classification and correct nomenclature of the non-compact ventricles will contribute to the precisely and completely understanding of etiology and its related patho-physiological mechanism for a better risk stratification and more personalized therapy of the disease individually. All of the genetic heterogeneity and phenotypical overlap and the variety in histopathological, electromechanical and clinical presentation indicates that some of the cardiomyopathies might just be the different consequence of myocardial development variations related to gene mutation and phenotype of one or group genes induced by the interacted and disturbed process of gene modulation at different links of gene function expression and some other etiologies. This review aims to establish a new concept of "ventricular non-compaction syndrome" based on the demonstration of the current findings of etiology, epidemiology, histopathology and echocardiography related to the disorder of ventricular myocardial compaction and myocardial electromechanical function development.
自2006年以来,美国心脏协会已将心室心肌致密化不全认定为一种遗传性心肌病并进行了定义。关于这种以局部心室壁增厚和深陷的小梁隐窝为特征的心室心肌致密化不全的命名和发病机制存在争议,这种疾病常并发慢性心力衰竭、心律失常和血栓栓塞,并且通常与其他类型的遗传性或混合性心肌病的遗传学和表型重叠。对致密化不全心室进行恰当分类和正确命名,将有助于准确、全面地理解其病因及其相关病理生理机制,从而更好地对该疾病进行风险分层和更个体化的治疗。所有的遗传异质性、表型重叠以及组织病理学、机电学和临床表现的多样性表明,某些心肌病可能只是在基因功能表达的不同环节,由于基因调控的相互作用和干扰过程导致的与一个或一组基因突变及表型相关的心肌发育变异的不同后果,以及其他一些病因。本综述旨在基于对目前与心室心肌致密化及心肌机电功能发育障碍相关的病因、流行病学、组织病理学和超声心动图研究结果的阐述,建立“心室致密化不全综合征”这一新概念。