Epstein N D, Lin H J, Fananapazir L
Clinical Hematology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20892.
Am J Cardiol. 1990 Sep 1;66(5):627-31. doi: 10.1016/0002-9149(90)90492-j.
The diagnosis of hypertrophic cardiomyopathy (HC) is traditionally based on the demonstration by echocardiography of left ventricular hypertrophy in the absence of apparent cause. This study reports on 5 adults in 4 families who are obligate or highly probable carriers of the HC gene by virtue of their position in the pedigree, but who have normal echocardiographic findings. Four of these 5 patients had abnormal signal-averaged electrocardiograms, a finding suggesting the presence of electrical disease despite the absence of left ventricular hypertrophy. The fifth patient, an identical twin of a patient with familial HC, had neither left ventricular hypertrophy nor a myocardial electrical abnormality. These data indicate that the spectrum of HC includes patients who have a potentially arrhythmogenic left ventricular substrate but who have no evidence of left ventricular hypertrophy. Our data demonstrating generational skips also imply that some instances of HC previously judged to be sporadic may indeed by familial.
肥厚型心肌病（HC）的诊断传统上基于超声心动图显示左心室肥厚且无明显病因。本研究报告了4个家族中的5名成年人，由于他们在家族谱系中的位置，他们是HC基因的必然携带者或极有可能的携带者，但超声心动图检查结果正常。这5名患者中有4名信号平均心电图异常，这一发现表明尽管没有左心室肥厚，但存在电疾病。第五名患者是一名家族性HC患者的同卵双胞胎，既没有左心室肥厚也没有心肌电异常。这些数据表明，HC的范围包括那些有潜在致心律失常的左心室基质但没有左心室肥厚证据的患者。我们的数据显示隔代遗传，这也意味着一些先前被判定为散发性的HC病例可能实际上是家族性的。
