2006
DOI: 10.1097/01.gim.0000204468.85308.86
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The long QT syndrome family of cardiac ion channelopathies: A HuGE review

Abstract: Long QT syndrome (LQTS) refers to a group of "channelopathies"-disorders that affect cardiac ion channels. The "family" concept of syndromes has been applied to the multiple LQTS genotypes, LQT1-8, which exhibit converging mechanisms leading to QT prolongation and slowed ventricular repolarization. The 470ϩ allelic mutations induce loss-of-function in the passage of mainly K ϩ ions, and gain-of-function in the passage of Na ϩ ions through their respective ion channels. Resultant early after depolarizations can… Show more

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Cited by 146 publications
(97 citation statements)
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“…TRPM4 E7K correlated with elevated density of the TRPM4 channel in the plasma membrane because of attenuated channel deSUMOylation, a mechanism in the etiology of cardiac channelopathies (22,39) that was, to our knowledge, previously unknown. Gain-of-function mutations in ion channels associated with cardiac arrhythmias are relatively rare (40)(41)(42). Ion channel mutations mostly lead to loss of channel function by disrupting subunit assembly, anterograde trafficking, and/or ion channel gating properties (22)(23)(24)(25)(26)(27).…”
Section: Discussionmentioning
confidence: 99%
“…TRPM4 E7K correlated with elevated density of the TRPM4 channel in the plasma membrane because of attenuated channel deSUMOylation, a mechanism in the etiology of cardiac channelopathies (22,39) that was, to our knowledge, previously unknown. Gain-of-function mutations in ion channels associated with cardiac arrhythmias are relatively rare (40)(41)(42). Ion channel mutations mostly lead to loss of channel function by disrupting subunit assembly, anterograde trafficking, and/or ion channel gating properties (22)(23)(24)(25)(26)(27).…”
Section: Discussionmentioning
confidence: 99%
“…LQT3 se asocia a mutaciones en los canales de sodio voltaje dependientes I Na , otorgán-doles una "ganancia en su función", manteniendo el ingreso de sodio a la célula por más tiempo, prolongando el potencial de acción. Este grupo en general puede manifestar episodios sincopales y muerte súbita en reposo o durante el sueño [25][26][27][28][29][30][31][32] . Todas las variantes de cLQTS presentan aumento de la DRT como factor fisiopatológico clave, independiente de la duración del intervalo QT.…”
Section: Síndrome De Qt Largo Congénitounclassified
“…The first causal mutation in the beta-myosin heavy chain was described in a large French-Canadian family in 1990 (25). Monogenic causes have been identified for many other cardiovascular disorders, including dyslipidemia (26), coronary disease (27), dilated cardiomyopathy (28), long QT syndrome (29), arrhythmogenic right ventricular cardiomyopathy (30) and atrial fibrillation (31).…”
Section: Application Of Genomics and Proteomics To Cardiovascular Dismentioning
confidence: 99%