Keller Dagmar I
Klinik und Poliklinik für Innere Medizin, UniversitätsSpital Zürich.
Ther Umsch. 2010 Jul;67(7):341-8. doi: 10.1024/0040-5930/a000062.
Inherited arrhythmic syndromes can manifest as sudden cardiac death as first, but fatal manifestation. Congenital Long QT Syndrome and Brugada Syndrome affect cardiac repolarisation and are characterised by specific phenotypes on the 12-lead surface ECG. In both syndromes numerous mutations have been identified in the genes encoding the responsible ion channels or other components of the membrane. Two case studies will illustrate aspects of clinical diagnosis including genetic testing and in vitro studies exploring pathophysiology.
遗传性心律失常综合征最初可能表现为心脏性猝死，但这是致命的表现。先天性长QT综合征和Brugada综合征影响心脏复极，其特征是在12导联体表心电图上有特定的表型。在这两种综合征中，已在编码相关离子通道或膜的其他成分的基因中鉴定出许多突变。两个病例研究将说明临床诊断的各个方面，包括基因检测和探索病理生理学的体外研究。
