Celiker A, Oto A, Ozme S
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Turk J Pediatr. 1993 Jan-Mar;35(1):59-64.
Two siblings with sinus node disease are presented. The patients were severely affected and required permanent pacing. A cardiac electrophysiologic study was conducted in Case 2, which revealed an atrioventricular conduction disturbance in addition to sinus node dysfunction. The parents and other siblings showed no evidence of sinus node disorder. The occurrence of this disease in these siblings suggests an autosomal dominant mode of inheritance with variable penetrance.
本文报告了两例患有窦房结疾病的兄弟姐妹。这两名患者病情严重,需要永久性起搏治疗。对病例2进行了心脏电生理研究,结果显示除窦房结功能障碍外,还存在房室传导障碍。其父母和其他兄弟姐妹未显示出窦房结疾病的迹象。这些兄弟姐妹中出现这种疾病提示为常染色体显性遗传模式,且具有可变的外显率。