Genotype- and phenotype-guided management of congenital long QT syndrome.
Genotype- and phenotype-guided management of congenital long QT syndrome.
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DOI：
10.1016/j.cpcardiol.2013.08.001
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发表时间：
2013-10
影响因子：
4.2
通讯作者：
Ackerman, Michael J.
中科院分区：
文献类型：
--
作者：
Giudicessi, John R.;Ackerman, Michael J.
Congenital Long QT syndrome (LQTS) is a genetically heterogeneous collection of heritable disorders of myocardial repolarization linked by their shared clinical phenotype of QT prolongation on electrocardiogram and an increased risk of potentially life-threatening cardiac arrhythmias. At the molecular level, mutations in 15 distinct LQTS-susceptibility genes that encode ion channel pore-forming α-subunits and accessory/auxiliary subunits central to the electromechanical function of the heart have been implicated in its pathogenesis. Over the past two decades, our evolving understanding of the electrophysiological mechanisms by which specific genetic substrates perturb the cardiac action potential has translated into vastly improved approaches to the diagnosis, risk stratification, and treatment of patients with LQTS. In this Review, we detail how our understanding of the molecular underpinnings of LQTS has yielded numerous clinically meaningful genotype-phenotype correlations and how these insights have translated into genotype- and phenotype-guided approaches to the clinical management of LQTS.
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DOI：
10.1161/circgenetics.113.000138
发表时间：
2013-06
期刊：
Circulation. Cardiovascular genetics
影响因子：
--
作者：
Boczek NJ;Best JM;Tester DJ;Giudicessi JR;Middha S;Evans JM;Kamp TJ;Ackerman MJ
通讯作者：
Ackerman MJ
影响因子：
37.8
作者：
Fishman GI;Chugh SS;Dimarco JP;Albert CM;Anderson ME;Bonow RO;Buxton AE;Chen PS;Estes M;Jouven X;Kwong R;Lathrop DA;Mascette AM;Nerbonne JM;O'Rourke B;Page RL;Roden DM;Rosenbaum DS;Sotoodehnia N;Trayanova NA;Zheng ZJ
通讯作者：
Zheng ZJ
影响因子：
37.8
作者：
Crotti, Lia;Monti, Maria Cristina;George, Alfred L., Jr.
通讯作者：
George, Alfred L., Jr.
DOI：
10.1073/pnas.0710527105
发表时间：
2007-12-26
影响因子：
11.1
作者：
Chen, Lei;Marquardt, Michelle L.;Kass, Robert S.
通讯作者：
Kass, Robert S.
影响因子：
8
作者：
Dufendach, Keith A.;Giudicessi, John R.;Ackerman, Michael J.
通讯作者：
Ackerman, Michael J.