Chin T K, Perloff J K, Williams R G, Jue K, Mohrmann R
Department of Pediatrics, UCLA Center for the Health Sciences.
Circulation. 1990 Aug;82(2):507-13. doi: 10.1161/01.cir.82.2.507.
Isolated noncompaction of left ventricular myocardium is a rare disorder of endomyocardial morphogenesis characterized by numerous, excessively prominent ventricular trabeculations and deep intertrabecular recesses. This study comprised eight cases, including three at necropsy. Ages ranged from 11 months to 22.5 years, with follow-up as long as 5 years. Gross morphological severity ranged from moderately abnormal ventricular trabeculations to profoundly abnormal, loosely compacted trabeculations. Echocardiographic images were diagnostic and corresponded to the morphological appearances at necropsy. The depths of the intertrabecular recesses were assessed by a quantitative echocardiographic X-to-Y ratio and were significantly greater than in normal control subjects (p less than 0.001). Clinical manifestations of the disorder included depressed left ventricular systolic function in five patients, ventricular arrhythmias in five, systemic embolization in three, distinctive facial dysmorphism in three, and familial recurrence in four patients. We conclude that isolated noncompaction of left ventricular myocardium is a rare if not unique disorder with characteristic morphological features that can be identified by two-dimensional echocardiography. The incidence of cardiovascular complications is high. The disorder may be associated with facial dysmorphism and familial recurrence.
孤立性左心室心肌致密化不全是一种罕见的心内膜形态发生紊乱疾病，其特征为大量过度突出的心室小梁和深陷的小梁间隐窝。本研究包括8例病例，其中3例为尸检病例。年龄范围为11个月至22.5岁，随访时间长达5年。大体形态严重程度从中度异常的心室小梁到极度异常、疏松致密的小梁不等。超声心动图图像具有诊断价值，与尸检时的形态表现相符。通过定量超声心动图X/Y比值评估小梁间隐窝的深度，其深度显著大于正常对照受试者（p<0.001）。该疾病的临床表现包括5例患者左心室收缩功能降低、5例患者室性心律失常、3例患者全身栓塞、3例患者独特的面部畸形以及4例患者家族复发。我们得出结论，孤立性左心室心肌致密化不全是一种罕见（即便不是独特）的疾病，具有可通过二维超声心动图识别的特征性形态学特征。心血管并发症的发生率很高。该疾病可能与面部畸形和家族复发有关。
