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Long QT syndrome 3; LQT3

Disease ID:566
Name:Long QT syndrome 3; LQT3
Associated with:1 target
Long QT syndrome | Romano-Ward syndrome
Database Links
Disease Ontology: DOID:2843
OMIM: 603830
Orphanet: ORPHA101016


Role:  Nav1.5 is the site of mutations in long QT Syndrome type 3, an inherited cardic arrhythmia. More than 40 mutations cause LQT-3. They cause a gain of function impairing fast inactivation of sodium channels, by negatively shifting the voltage dependence of activation, or both.
Drugs:  Treated with mexiletine and other sodium channel-blocking antiarrhythmic drugs. Treatment success is correlated with the functional effects of individual mutations.
References:  5-6,9
Mutations:  Nav1.5 is associated with 9 mutation. Click here for details


No ligand related data available for Long QT syndrome 3; LQT3


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1. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA. (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA, 286 (18): 2264-9. [PMID:11710892]

2. Makita N, Behr E, Shimizu W, Horie M, Sunami A, Crotti L, Schulze-Bahr E, Fukuhara S, Mochizuki N, Makiyama T, Itoh H, Christiansen M, McKeown P, Miyamoto K, Kamakura S, Tsutsui H, Schwartz PJ, George AL, Roden DM. (2008) The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest, 118 (6): 2219-29. [PMID:18451998]

3. Makita N, Shirai N, Nagashima M, Matsuoka R, Yamada Y, Tohse N, Kitabatake A. (1998) A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome. FEBS Lett, 423 (1): 5-9. [PMID:9506831]

4. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS. (2001) Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J Biol Chem, 276 (33): 30623-30. [PMID:11410597]

5. Ruan Y, Liu N, Bloise R, Napolitano C, Priori SG. (2007) Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation, 116 (10): 1137-44. [PMID:17698727]

6. Ruan Y, Liu N, Priori SG. (2009) Sodium channel mutations and arrhythmias. Nat Rev Cardiol, 6 (5): 337-48. [PMID:19377496]

7. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R. (2000) A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med, 343 (4): 262-7. [PMID:10911008]

8. Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT. (1995) Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet, 4 (9): 1603-7. [PMID:8541846]

9. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JL, Moss AJ, Towbin JA, Keating MT. (1995) SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell, 80 (5): 805-11. [PMID:7889574]

10. Wei J, Wang DW, Alings M, Fish F, Wathen M, Roden DM, George AL. (1999) Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. Circulation, 99 (24): 3165-71. [PMID:10377081]