KEGG   DISEASE: Long QT syndrome
Entry
H00720                      Disease                                
Name
Long QT syndrome
  Subgroup
Romano-Ward syndrome
Jervell and Lange-Nielsen syndrome (JLNS) [DS:H02091]
Timothy syndrome
Description
Long QT syndrome (LQTS) is a cardiovascular disorder resulting from mutations in cardiac ion channels. LQTS is characterized by prolongation of the QT interval in the electrocardiogram (ECG) and a propensity to torsades de pointes ventricular tachycardia frequently leading to syncope, cardiac arrest, or sudden death usually in young otherwise healthy individuals. Anesthesia in a patient with LQTS can trigger malignant arrhythmias and is therefore a high-risk procedure. There are two well-known syndromes with a long QT interval. The Romano-Ward syndrome is characterized by an autosomal-dominant inheritance without familial deafness. The Jervell and Lange-Nielsen syndrome (JLNS) has an autosomal-recessive pattern of inheritance and is associated with deafness.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   BC65  Cardiac arrhythmia associated with genetic disorder
    H00720  Long QT syndrome
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06528  Calcium signaling
   H00720  Long QT syndrome
Pathway
hsa04020  Calcium signaling pathway
Network
nt06528 Calcium signaling
Gene
(LQT1) KCNQ1 [HSA:3784] [KO:K04926]
(LQT2) KCNH2 [HSA:3757] [KO:K04905]
(LQT3) SCN5A [HSA:6331] [KO:K04838]
(LQT4) ANK2 [HSA:287] [KO:K10380]
(LQT5) KCNE1 [HSA:3753] [KO:K04894]
(LQT6) KCNE2 [HSA:9992] [KO:K04896]
(LQT7) KCNJ2 [HSA:3759] [KO:K04996]
(LQT8) CACNA1C [HSA:775] [KO:K04850]
(LQT9) CAV3 [HSA:859] [KO:K12959]
(LQT10) SCN4B [HSA:6330] [KO:K04848]
(LQT11) AKAP9 [HSA:10142] [KO:K16551]
(LQT12) SNTA1 [HSA:6640] [KO:K24063]
(LQT13) KCNJ5 [HSA:3762] [KO:K04999]
(LQT14) CALM1 [HSA:801] [KO:K02183]
(LQT15) CALM2 [HSA:805] [KO:K02183]
(LQT16) CALM3 [HSA:808] [KO:K02183]
Other DBs
ICD-11: BC65.0
ICD-10: I45.81
OMIM: 192500 613688 603830 600919 613695 613693 170390 618447 601005 611818 611819 611820 612955 613485 220400 616247 616249 612347 618782
Reference
  Authors
Kim HT, Lee JH, Park IB, Heo HE, Kim TY, Lee MJ
  Title
Long QT syndrome provoked by induction of general anesthesia -A case report-.
  Journal
Korean J Anesthesiol 59 Suppl:S114-8 (2010)
DOI:10.4097/kjae.2010.59.S.S114
Reference
  Authors
Zareba W, Cygankiewicz I
  Title
Long QT syndrome and short QT syndrome.
  Journal
Prog Cardiovasc Dis 51:264-78 (2008)
DOI:10.1016/j.pcad.2008.10.006
Reference
  Authors
Saussine M, Massad I, Raczka F, Davy JM, Frapier JM
  Title
Torsade de pointes during sevoflurane anesthesia in a child with congenital long QT syndrome.
  Journal
Paediatr Anaesth 16:63-5 (2006)
DOI:10.1111/j.1460-9592.2005.01593.x
Reference
  Authors
Ilhan A, Tuncer C, Komsuoglu SS, Kali S
  Title
Jervell and Lange-Nielsen syndrome: neurologic and cardiologic evaluation.
  Journal
Pediatr Neurol 21:809-13 (1999)
DOI:10.1016/S0887-8994(99)00100-9
Reference
PMID:8528244 (LQT1)
  Authors
Wang Q, Curran ME, Splawski I, Burn TC, Millholland JM, VanRaay TJ, Shen J, Timothy KW, Vincent GM, de Jager T, Schwartz PJ, Toubin JA, Moss AJ, Atkinson DL, Landes GM, Connors TD, Keating MT
  Title
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
  Journal
Nat Genet 12:17-23 (1996)
DOI:10.1038/ng0196-17
Reference
PMID:7889573 (LQT2)
  Authors
Curran ME, Splawski I, Timothy KW, Vincent GM, Green ED, Keating MT
  Title
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
  Journal
Cell 80:795-803 (1995)
DOI:10.1016/0092-8674(95)90358-5
Reference
PMID:8541846 (LQT3)
  Authors
Wang Q, Shen J, Li Z, Timothy K, Vincent GM, Priori SG, Schwartz PJ, Keating MT
  Title
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
  Journal
Hum Mol Genet 4:1603-7 (1995)
DOI:10.1093/hmg/4.9.1603
Reference
PMID:12571597 (LQT4)
  Authors
Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V
  Title
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death.
  Journal
Nature 421:634-9 (2003)
DOI:10.1038/nature01335
Reference
PMID:9354802 (LQT5)
  Authors
Splawski I, Tristani-Firouzi M, Lehmann MH, Sanguinetti MC, Keating MT
  Title
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
  Journal
Nat Genet 17:338-40 (1997)
DOI:10.1038/ng1197-338
Reference
PMID:10219239 (LQT6)
  Authors
Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA
  Title
MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia.
  Journal
Cell 97:175-87 (1999)
DOI:10.1016/S0092-8674(00)80728-X
Reference
PMID:11371347 (LQT7)
  Authors
Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ
  Title
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
  Journal
Cell 105:511-9 (2001)
DOI:10.1016/s0092-8674(01)00342-7
Reference
PMID:23677916 (LQT8)
  Authors
Boczek NJ, Best JM, Tester DJ, Giudicessi JR, Middha S, Evans JM, Kamp TJ, Ackerman MJ
  Title
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
  Journal
Circ Cardiovasc Genet 6:279-89 (2013)
DOI:10.1161/CIRCGENETICS.113.000138
Reference
PMID:17060380 (LQT9)
  Authors
Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA
  Title
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
  Journal
Circulation 114:2104-12 (2006)
DOI:10.1161/CIRCULATIONAHA.106.635268
Reference
PMID:17592081 (LQT10)
  Authors
Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusie-Luna MT, Makielski JC, Ackerman MJ
  Title
SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.
  Journal
Circulation 116:134-42 (2007)
DOI:10.1161/CIRCULATIONAHA.106.659086
Reference
PMID:18093912 (LQT11)
  Authors
Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS
  Title
Mutation of an A-kinase-anchoring protein causes long-QT syndrome.
  Journal
Proc Natl Acad Sci U S A 104:20990-5 (2007)
DOI:10.1073/pnas.0710527105
Reference
PMID:18591664 (LQT12)
  Authors
Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC
  Title
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex.
  Journal
Proc Natl Acad Sci U S A 105:9355-60 (2008)
DOI:10.1073/pnas.0801294105
Reference
PMID:20560207 (LQT13)
  Authors
Yang Y, Yang Y, Liang B, Liu J, Li J, Grunnet M, Olesen SP, Rasmussen HB, Ellinor PT, Gao L, Lin X, Li L, Wang L, Xiao J, Liu Y, Liu Y, Zhang S, Liang D, Peng L, Jespersen T, Chen YH
  Title
Identification of a Kir3.4 mutation in congenital long QT syndrome.
  Journal
Am J Hum Genet 86:872-80 (2010)
DOI:10.1016/j.ajhg.2010.04.017
Reference
PMID:23388215 (LQT14 LQT15)
  Authors
Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kaab S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr
  Title
Calmodulin mutations associated with recurrent cardiac arrest in infants.
  Journal
Circulation 127:1009-17 (2013)
DOI:10.1161/CIRCULATIONAHA.112.001216
Reference
PMID:25460178 (LQT16)
  Authors
Reed GJ, Boczek NJ, Etheridge SP, Ackerman MJ
  Title
CALM3 mutation associated with long QT syndrome.
  Journal
Heart Rhythm 12:419-22 (2015)
DOI:10.1016/j.hrthm.2014.10.035

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