Kieny J R, Stoll C, Roul G, Hessel F, Bareiss P, Sacrez A
Service de cardiologie, fondation Lucien-Dreyfus, clinique du Diaconat, Mulhouse.
Arch Mal Coeur Vaiss. 1992 Nov;85(11):1559-62.
In a family of 9 persons over 3 generations, 6 had incessant polymorphic ventricular extrasystoles, often in salves, resembling unsustained bidirectional ventricular tachycardia. Ventricular repolarisation was abnormal with giant U waves. Five persons had suffered syncopes. All had a facial abnormality: one woman had a complete Pierre Robin syndrome with mandibular hypoplasia, glossoptos and cleft palate; in the other cases, minor forms were observed, with micrognathia and ogival palate. Two patients had bone abnormalities of the feet with total agenesis of the last 2 phalanges of several toes. This familial polymorphic ventricular extrasystole with repolarisation abnormalities has many features in common with the congenital long QT syndrome; associated with the Pierre Robin syndrome and bone abnormalities of the extremities it would seem to be a new multiple congenital abnormalities syndrome.
在一个三代同堂的9口之家中，6人有持续性多形性室性期前收缩，常呈短阵发作，类似非持续性双向室性心动过速。心室复极异常，出现巨大U波。5人曾发生晕厥。所有人都有面部异常：一名女性患有完全性皮埃尔·罗宾综合征，伴有下颌发育不全、舌后坠和腭裂；在其他病例中，观察到轻微形式，有小颌畸形和尖顶腭。两名患者足部有骨骼异常，几个脚趾的末节指骨完全缺如。这种伴有复极异常的家族性多形性室性期前收缩与先天性长QT综合征有许多共同特征；与皮埃尔·罗宾综合征和四肢骨骼异常相关，似乎是一种新的多发性先天性异常综合征。
