Bharati S, Surawicz B, Vidaillet H J, Lev M
Congenital Heart and Conduction System Center, Christ Hospital and Medical Center Oak Lawn, Illinois.
Pacing Clin Electrophysiol. 1992 Nov;15(11 Pt 1):1720-9. doi: 10.1111/j.1540-8159.1992.tb02960.x.
We describe pathological abnormalities in a 72-year-old male member of a family with a congenital absence of sinus rhythm and a tendency to develop atrial fibrillation at an early age, and in a 54-year-old female member of a family with cardiomyopathy and progressive conduction system disease manifested by first-degree atrioventricular (AV) block, left bundle branch block, and atrial arrhythmias. Both patients died suddenly. The absence of sinus rhythm in case 1 could be explained by marked atrophy, degeneration, and isolation of the sinoatrial (SA) node. The SA node was also diseased in the member of the other family with atrial arrhythmias. Additional common features in both cases included: fatty metamorphosis and degenerative changes of the approaches to the SA node, the atrial preferential fibers, and the approaches to the AV node, a small AV node, degenerative changes of the bundle branches, and floppy AV valves. These findings show that the pathological substrate of familial supraventricular arrhythmias consists of a diffuse involvement of the entire conduction system, bearing resemblance to pathological findings in elderly subjects with acquired sick sinus syndrome.
我们描述了一个家族中两名患者的病理异常情况。一名72岁男性，该家族存在先天性窦性心律缺失且有早年发生心房颤动的倾向；另一名54岁女性，该家族患有心肌病和进行性传导系统疾病，表现为一度房室传导阻滞、左束支传导阻滞和房性心律失常。两名患者均突然死亡。病例1中窦性心律缺失可归因于窦房结明显萎缩、变性和孤立。另一家族中患有房性心律失常的成员的窦房结也存在病变。两例的其他共同特征包括：窦房结通路、心房优势纤维以及房室结通路的脂肪变性和退行性改变，房室结较小，束支退行性改变，以及房室瓣松弛。这些发现表明，家族性室上性心律失常的病理基础是整个传导系统的弥漫性受累，这与老年获得性病态窦房结综合征的病理表现相似。
