A Clinical Approach to Inherited Arrhythmias
A Clinical Approach to Inherited Arrhythmias
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DOI：
10.1161/circgenetics.110.959429
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发表时间：
2012-10-01
影响因子：
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通讯作者：
Priori, Silvia G.
中科院分区：
文献类型：
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作者：
Cerrone, Marina;Cummings, Samori;Priori, Silvia G.
长QT综合征有两种不同的传播方式。常染色体显性形式（Romano Ward综合征）是最常见的。罕见的常染色体隐性形式（Jervell-Lange-Nielsen综合征）与伴有神经性耳聋有关。只有2个基因（KCNQ1和KCNE1）与这种形式有关，如果家族中除了耳聋之外还有血缘关系，就应该怀疑。引起常染色体显性变异的LQTS基因的列表在不断扩大，目前总共有13个基因。1,10,11都编码离子通道蛋白或蛋白质，如伴侣和调节离子通道的调节剂。因此，LQTS突变的最终常见后果是心脏动作电位的一个或多个离子电流被破坏，最终导致异常延长的复极。尽管存在显著的异质性
Long QT syndrome presents with 2 different modes of transmission. 1 The autosomal dominant form (Romano Ward syndrome) is the most common. The rare autosomal recessive form (Jervell-Lange-Nielsen syndrome) is associated with concomitant neurosensorial deafness. Only 2 genes (KCNQ1 and KCNE1) have been linked to this form and should be suspected if consanguinity is present in the family in addition to deafness. 10The list of LQTS genes causing the autosomal dominant variant is expanding constantly, and currently totals 13 genes. 1, 10, 11 All encode for ion channel proteins or for proteins such as chaperons and modulators that regulate ion channels. Therefore, the final common consequence of LQTS mutations is the disruption of 1 or more ionic currents of the cardiac action potential, ultimately resulting in abnormally prolonged repolarization. Despite the remarkable heterogeneity