KEGG DISEASE: Long QT syndrome

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:K09255]
(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

PMID:21286418

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

PMID:19026859

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

PMID:16409532

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

PMID:10593671

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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