Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood.

Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood.
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DOI:
10.1016/j.tcm.2008.11.002
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发表时间:
2008-08
影响因子:
9.3
通讯作者:
Berul, Charles I.
Berul, Charles I.
中科院分区:
医学2区
文献类型:
--
作者:
Webster, Gregory;Berul, Charles I.

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长 QT 综合征 (LQTS) 在各个年龄段都有报道,是心血管死亡的重要原因,特别是在结构正常的心脏中。跨膜离子传导通道和结构蛋白的异常会产生这些临床综合征,标记为 LQT1-LQT12;然而,基因型阳性患者仍仅占 LQTS 的 70% 左右。未来的研究将确定其余病例的病因,进一步对已知的遗传缺陷进行风险分层,改进这些综合征的当前治疗方案,并发现新的疗法。
Long-QT syndromes (LQTSs) have been described in all ages and are a significant cause of cardiovascular mortality, especially in structurally normal hearts. Abnormalities in transmembrane ion conduction channels and structural proteins produce these clinical syndromes, labeled LQT1-LQT12; however, genotype-positive patients still represent only about 70% of LQTSs. Future research will determine the etiology of the remaining cases, further risk-stratify the known genetic defects, improve current treatment options for these syndromes, and uncover novel therapies.
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