KEGG   DISEASE: Long QT syndromeHelp
Entry
H00720                      Disease                                

Name
Long QT syndrome
  Subgroup
Romano-Ward syndrome
Jervell and Lange-Nielsen syndrome (JLNS) [DS:H02091]
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 [BR:br08402]
 Cardiovascular diseases
  Cardiac diseases
   H00720  Long QT syndrome
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
BRITE hierarchy
Pathway
hsa04261 Adrenergic signaling in cardiomyocytes   
hsa04921 Oxytocin signaling pathway   
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]
(LQT13) KCNJ5 [HSA:3762] [KO:K04999]
(LQT14) CALM1 [HSA:801] [KO:K02183]
(LQT15) CALM2 [HSA:805] [KO:K02183]
Env factor
Sevoflurane [CPD:C07520]
Isoflurane [CPD:C07518]
Desflurane [CPD:C07519]
Other DBs
ICD-11: BC65.0
ICD-10: I45.81
OMIM: 192500 613688 603830 600919 613695 613693 170390 601005 611818 611819 611820 612955 613485 220400 616247 616249 612347
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
PMID:17498019 (environmental factor)
  Authors
Aypar E, Karagoz AH, Ozer S, Celiker A, Ocal T
  Title
The effects of sevoflurane and desflurane anesthesia on QTc interval and cardiac rhythm in children.
  Journal
Paediatr Anaesth 17:563-7 (2007)
DOI:10.1111/j.1460-9592.2006.02152.x
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
  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
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