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Phenotype profile

long QT syndrome

SaudiVarKB evidence summary derived from retained literature mentions.

44Phenotype mentions
44Publications
10Associated gene records
15Associated variant records

Associated gene records

Co-mentioned in the same publications
GeneIdentifier / contextArticlesMentions
KCNQ1HGNC:629499
SCN5AHGNC:1059388
KCNH2HGNC:625166
NOS1APHGNC:1685922
ARHGNC:64411
RYR2HGNC:1048411
KCNE1HGNC:624011
CALM1HGNC:144211
CALM2HGNC:144511
CALM3HGNC:144911

Associated variant records

Co-mentioned in the same publications
VariantIdentifier / contextArticlesMentions
p.H258Pp.H258P11
rs4657139rs465713911
rs16847548rs1684754811
c.387-5T>Ac.387-5T>A11
p.Val172Metp.Val172Met11
p.Arg293Cysp.Arg293Cys11
E1053KE1053K11
-5T>A-5T>A11
c.1486_1487delCTc.1486_1487delCT11
c.1251+1G>Tc.1251+1G>T11
rs10494366rs1049436611
rs12143842rs1214384211
rs2880058rs288005811
rs12029454rs1202945411
rs12576239rs1257623911

Associated population records

Co-mentioned in the same publications
PopulationIdentifier / contextArticlesMentions
Saudi Arabia44
Saudi Arabia11
Population record11
Population recordCohort 011
Population recordCohort 5911
Population recordCohort 411
Saudi ArabiaCohort 1311
Population recordCohort 2,00011
Saudi ArabiaCohort 111
Population recordCohort 7411
Population recordCohort 44211
Population recordCohort 30211
Saudi ArabiaCohort 2811
Population recordCohort 2,88811
Population recordCohort 1,26311
Population recordCohort 1,48411
Saudi Arabia · Southern Province11
Population recordCohort 39111
Population recordCohort 4,91611
Population recordCohort 63911

Supporting publications

44 records
  1. 2025Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.Journal of the Saudi Heart Association1 mentions
  2. 2025Multisystem inflammatory syndrome in children (MIS-C) presenting with valvulitis, myocarditis, and QTc prolongation: A case report from Saudi Arabia.Medicine1 mentions
  3. 2023Vandetanib.Profiles of drug substances, excipients, and related methodology1 mentions
  4. 2023Anesthetic management of a young primigravida a case of symptomatic long QT syndrome with a permanent pacemaker in-situ undergoing lower segment cesarean section delivery: A case report.Saudi journal of anaesthesia1 mentions
  5. 2023Manual vs. automatic assessment of the QT-interval and corrected QT.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology1 mentions
  6. 2022Exploring the role of Islam on the lived experience of patients with Long QT Syndrome in Saudi Arabia.Journal of genetic counseling1 mentions
  7. 2022Acquired long QT syndrome due to antiemetics, COVID-19 and Blastocystis hominis induced exacerbation of congenital chloride losing diarrhoea.BMJ case reports1 mentions
  8. 2020Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.American journal of obstetrics and gynecology1 mentions
  9. 2020An unusual cause of polymorphic ventricular tachycardia: Acquired long QT syndrome from atypical variant of stress-induced cardiomyopathy.SAGE open medical case reports1 mentions
  10. 2019Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.European heart journal1 mentions
  11. 2019Heritability in genetic heart disease: the role of genetic background.Open heart1 mentions
  12. 2018Therapeutic approaches for Long QT syndrome type 3: an update.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology1 mentions
  13. 2018Effect of age and gender on the QTc-interval in healthy individuals and patients with long-QT syndrome.Trends in cardiovascular medicine1 mentions
  14. 2018Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.JACC. Clinical electrophysiology1 mentions
  15. 2018SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.European heart journal1 mentions
  16. 2018Determination and Interpretation of the QT Interval.Circulation1 mentions
  17. 2017Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene.Forensic science international1 mentions
  18. 2017Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.Heart rhythm1 mentions
  19. 2017Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.Journal of the American College of Cardiology1 mentions
  20. 2017Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.Molecular genetics & genomic medicine1 mentions
  21. 2017Channelopathies as Causes of Sudden Cardiac Death.Cardiac electrophysiology clinics1 mentions
  22. 2016Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: A systematic review and meta-analysis of inappropriate shocks and complications.Heart rhythm1 mentions
  23. 2016Genetic screening in acquired long QT syndrome? CAUTION: proceed carefully.European heart journal1 mentions
  24. 2016Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter Study.Circulation1 mentions
  25. 2015Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Clinical genetics1 mentions
  26. 2015Safe anesthesia management protocol of a child with congenital long QT syndrome and deafness (Jervell and lange-nielsen syndrome) for cochlear implant surgery.Saudi journal of anaesthesia1 mentions
  27. 2015Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.Circulation. Cardiovascular genetics1 mentions
  28. 2015MY APPROACH to the long QT syndrome (LQTS).Trends in cardiovascular medicine1 mentions
  29. 2015Channelopathies - emerging trends in the management of inherited arrhythmias.Indian pacing and electrophysiology journal1 mentions
  30. 2015Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.Circulation. Cardiovascular genetics1 mentions
  31. 2015Inherited ion channel diseases: a brief review.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology1 mentions
  32. 2014Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients.Heart rhythm1 mentions
  33. 2014Inherited arrhythmia syndromes leading to sudden cardiac death in the young: a global update and an Indian perspective.Indian heart journal1 mentions
  34. 2014Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.Nature genetics1 mentions
  35. 2014Beta-blockers in the treatment of congenital long QT syndrome: is one beta-blocker superior to another?Journal of the American College of Cardiology1 mentions
  36. 2013Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.Clinical genetics1 mentions
  37. 2013Impact of genetics on the clinical management of channelopathies.Journal of the American College of Cardiology1 mentions
  38. 2013Congenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Frontiers in pediatrics1 mentions
  39. 2009Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?Pediatric cardiology1 mentions
  40. 2008An intronic mutation leading to incomplete skipping of exon-2 in KCNQ1 rescues hearing in Jervell and Lange-Nielsen syndrome.Progress in biophysics and molecular biology1 mentions
  41. 2002Malignant familial long QT syndrome.Saudi medical journal1 mentions
  42. 1999Picture of the month. Jervell and Lange-Nielsen syndrome (long QT syndrome).Archives of pediatrics & adolescent medicine1 mentions
  43. 1998The long QT syndrome with impaired atrioventricular conduction: a malignant variant in infants.Journal of cardiovascular electrophysiology1 mentions
  44. 1993Idiopathic long QT syndrome: asking the right question.Lancet (London, England)1 mentions