Abstract

短QT综合征是以QT间期缩短、心脏性猝死高风险为特征的遗传性心脏离子通道病。它属于常染色体显性遗传,发病罕见,与编码钾通道和钙通道的基因突变有关,基因突变导致的I(Kr)、I(Ks)、I(K1)增大和I(Ca,L)功能丢失,使净外向电流增加或内向电流减少,复极加速,动作电位时程缩短和复极离散度增加,最终触发室性心动过速/心室颤动(VT/VF)。植入式心脏复律除颤器是唯一有效的防治心脏性猝死的手段,奎尼丁和索他洛尔通过延长有效不应期和QT间期,可有效预防VT/VF。.

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