Louie E K, Maron B J
Br Heart J. 1986 May;55(5):469-74. doi: 10.1136/hrt.55.5.469.
Two siblings with hypertrophic cardiomyopathy developed spontaneous complete heart block requiring permanent pacemaker implantation at similar ages (29 and 33 years). The clinical, morphological, and haemodynamic expressions of hypertrophic cardiomyopathy differed considerably in these two patients. The sister had severe functional limitation due to dyspnoea, pronounced and diffuse left ventricular hypertrophy (maximum ventricular septal thickness of 41 mm), and left ventricular outflow obstruction (peak subaortic gradient of 75 mm Hg under basal conditions). In contrast the brother was symptom free, had only modest left ventricular hypertrophy which was confined to the anterior ventricular septum (maximal thickness of 16 mm), and had no echocardiographic evidence of subaortic obstruction. These dissimilar findings in siblings with hypertrophic cardiomyopathy suggest that the predisposition to develop complete heart block was probably genetically transmitted, although it was unrelated to the phenotypic and clinical expression of the disease.
两名患有肥厚型心肌病的兄弟姐妹在相似年龄（分别为29岁和33岁）时出现自发性完全性心脏传导阻滞，需要植入永久性起搏器。这两名患者肥厚型心肌病的临床、形态学和血流动力学表现差异很大。姐姐因呼吸困难出现严重功能受限，有明显且弥漫性的左心室肥厚（最大室间隔厚度为41毫米），以及左心室流出道梗阻（基础状态下主动脉瓣下峰值梯度为75毫米汞柱）。相比之下，弟弟没有症状，仅有局限于前室间隔的轻度左心室肥厚（最大厚度为16毫米），且超声心动图未显示主动脉瓣下梗阻迹象。肥厚型心肌病兄弟姐妹中的这些不同发现表明，发生完全性心脏传导阻滞的易感性可能是通过基因传递的，尽管它与该疾病的表型和临床表现无关。
