Giray Dilek, Donmez Yasemin N, Epcacan Serdar, Goktas Emine
Department of Pediatric Cardiology, Van Training and Research Hospital, Van, Turkey.
Department of Medical Genetics, Van Training and Research Hospital, Van, Turkey.
Cardiol Young. 2020 Aug;30(8):1209-1211. doi: 10.1017/S1047951120001808. Epub 2020 Jul 8.
Cardio-facio-cutaneous syndrome is a genetic anomaly characterised by craniofacial dysmorphia, developmental retardation, skin lesions, mental retardation/learning disability, and cardiac malformations. Cardio-facio-cutaneous syndrome rarely causes arrhythmias and has not been previously associated with long QT in the literature. With this report, it was aimed to draw attention to a different presentation of the long QT syndrome.
心脏-颜面-皮肤综合征是一种基因异常疾病，其特征为颅面畸形、发育迟缓、皮肤病变、智力迟钝/学习障碍以及心脏畸形。心脏-颜面-皮肤综合征很少引起心律失常，且此前文献中未将其与长QT间期相关联。通过本报告，旨在引起人们对长QT综合征一种不同表现形式的关注。
