Cardiology, Arrhythmia, and Cardiac Stimulation Service, Amiens-Picardie University Hospital, Amiens, France.
Molecular Genetics Laboratory, Amiens-Picardie University Hospital, Amiens, France; EA4666 HEMATIM, University of Picardie-Jules Verne, Amiens, France.
Gene. 2021 Apr 20;777:145465. doi: 10.1016/j.gene.2021.145465. Epub 2021 Jan 29.
We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. He shows no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he shows developmental delays, without autism, and dental abnormalities. The cardiac phenotype is very severe, with a resuscitated cardiac arrest at 2.5 years of age, followed by 26 appropriate shocks during nine years of follow-up. Adding mexiletine to nadolol resulted in a reduction of the QTc and a slight decrease in the number of appropriate shocks.
我们报告了一例由 CACNA1C 基因外显子 8 中的 p.(Gly402Ser)突变引起的 2 型 TS 详细病例。该患者表现出明显的复极延长，平均 QTc 为 540ms。他没有结构性心脏病、并指或颅面异常。然而，他表现出发育迟缓，没有自闭症和牙齿异常。心脏表型非常严重，在 2.5 岁时发生了心脏骤停复苏，随后在 9 年的随访中发生了 26 次适当的电击。将美西律添加到纳多洛尔中可降低 QTc，并略微减少适当电击的次数。
