Toronto Congenital Cardiac Centre for Adults, Peter Munk Cardiac Centre, University Health Network/Toronto General Hospital, Toronto, Ontario, Canada.
Eur Heart J. 2011 Jun;32(12):1446-56. doi: 10.1093/eurheartj/ehq508. Epub 2011 Jan 31.
Non-compaction of the left ventricular myocardium (LVNC) has gained increasing recognition during the last 25 years. There is a morphological trait of the myocardial structure with a spectrum from normal variants to the pathological phenotype of LVNC, which reflects the embryogenic structure of the human heart due to an arrest in the compaction process during the first trimester. It must be cautioned not to overdiagnose LVNC: the morphological spectrum of trabeculations, from normal variants to pathological trabeculations with the morphological feature of LVNC must be carefully considered. The classical triad of complications are heart failure, arrhythmias, including sudden cardiac death, and systemic embolic events. Non-compaction of the left ventricular myocardium can occur in isolation or in association with congenital heart defects (CHDs), genetic syndromes, and neuromuscular disorders among others. The clinical spectrum is wide and the outcome is more favourable than in previously described populations with a negative selection bias. Familial occurrence is frequent with autosomal dominant and X-linked transmissions. Different mutations in sarcomere protein genes were identified and there seems to be a shared molecular aetiology of different cardiomyopathic phenotypes, including LVNC, hypertrophic and dilated cardiomyopathies. Thus, genetic heterogeneity, with an overlap of different phenotypes, and the variability of hereditary patterns, raise the questions whether there is a morphological trait from dilated/hypertrophic cardiomyopathy to LVNC and what are the triggers and modifiers to develop either dilated, hypertrophic cardiomyopathy, or LVNC in patients with the same mutation. The variety in clinical presentation, the genetic heterogeneity, and the phenotype of the first transgenetic animal model of an LVNC-associated mutation question the hypothesis that LVNC be a distinct cardiomyopathy: it seems to be rather a distinct phenotype or phenotypic, morphological expression of different underlying diseases than a distinct cardiomyopathy.
左心室心肌致密化不全（LVNC）在过去 25 年中得到了越来越多的认识。心肌结构存在形态特征，从正常变异到 LVNC 的病理表型，反映了人类心脏在第一个三个月胚胎发育过程中致密化过程的停滞。必须注意不要过度诊断 LVNC：必须仔细考虑从正常变异到具有 LVNC 形态特征的病理性小梁的小梁形态谱。经典的三联征是心力衰竭、心律失常，包括心源性猝死和全身性栓塞事件。LVNC 可单独发生或与先天性心脏病（CHD）、遗传综合征和神经肌肉疾病等相关。临床表现广泛，预后优于以前描述的具有负选择偏倚的人群。家族性发病频繁，呈常染色体显性和 X 连锁遗传。已经鉴定出不同的肌节蛋白基因突变，不同的心肌病表型（包括 LVNC、肥厚型和扩张型心肌病）似乎存在共同的分子发病机制。因此，遗传异质性、不同表型的重叠以及遗传模式的可变性，提出了是否存在从扩张型/肥厚型心肌病到 LVNC 的形态特征的问题，以及在具有相同突变的患者中，导致发展为扩张型、肥厚型心肌病或 LVNC 的触发因素和修饰因素是什么。临床表现的多样性、遗传异质性和第一个与 LVNC 相关突变的转基因动物模型的表型质疑了 LVNC 是一种独特心肌病的假说：它似乎更像是一种不同的表型或不同潜在疾病的形态学表达，而不是一种独特的心肌病。
