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Long QT syndrome 10(LQT10)

MedGen UID:
394836
Concept ID:
C2678484
Disease or Syndrome
Synonym: LQT10
 
Gene (location): SCN4B (11q23.3)
 
Monarch Initiative: MONDO:0012737
OMIM®: 611819

Authors:
Alexander J Groffen  |  Hennie Bikker  |  Imke Christiaans   view full author information

Additional description

From GeneReviews Overview
Long QT syndrome (LQTS) is a cardiac electrophysiologic disorder, characterized by QT prolongation and T-wave abnormalities on the EKG that are associated with tachyarrhythmias, typically the ventricular tachycardia torsade de pointes (TdP). TdP is usually self-terminating, thus causing a syncopal event, the most common symptom in individuals with LQTS. Such cardiac events typically occur during exercise and emotional stress, less frequently during sleep, and usually without warning. In some instances, TdP degenerates to ventricular fibrillation and causes aborted cardiac arrest (if the individual is defibrillated) or sudden death. Approximately 50% of untreated individuals with a pathogenic variant in one of the genes associated with LQTS have symptoms, usually one to a few syncopal events. While cardiac events may occur from infancy through middle age, they are most common from the preteen years through the 20s. Some types of LQTS are associated with a phenotype extending beyond cardiac arrhythmia. In addition to the prolonged QT interval, associations include muscle weakness and facial dysmorphism in Andersen-Tawil syndrome (LQTS type 7); hand/foot, facial, and neurodevelopmental features in Timothy syndrome (LQTS type 8); and profound sensorineural hearing loss in Jervell and Lange-Nielson syndrome.

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
T-wave alternans
MedGen UID:
745313
Concept ID:
C1998313
Finding
A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG.

Professional guidelines

PubMed

Könemann H, Dagres N, Merino JL, Sticherling C, Zeppenfeld K, Tfelt-Hansen J, Eckardt L
Europace 2023 May 19;25(5) doi: 10.1093/europace/euad091. PMID: 37102266Free PMC Article
Mackley M, McGuire K, Taylor J, Watkins H, Ormondroyd E
Circ Genom Precis Med 2018 Oct;11(10):e002316. doi: 10.1161/CIRCGEN.118.002316. PMID: 30354302Free PMC Article
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ
Circulation 2009 Nov 3;120(18):1752-60. Epub 2009 Oct 19 doi: 10.1161/CIRCULATIONAHA.109.863076. PMID: 19841300Free PMC Article

Recent clinical studies

Etiology

Bordet C, Garcia P, Salvo F, Touafchia A, Galinier M, Sommet A, Montastruc F
Psychopharmacology (Berl) 2023 Jan;240(1):199-202. Epub 2022 Dec 14 doi: 10.1007/s00213-022-06293-4. PMID: 36515735
Khatib R, Sabir FRN, Omari C, Pepper C, Tayebjee MH
Postgrad Med J 2021 Jul;97(1149):452-458. Epub 2020 Oct 29 doi: 10.1136/postgradmedj-2020-138661. PMID: 33122341Free PMC Article
Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG
J Am Coll Cardiol 2018 Apr 17;71(15):1663-1671. doi: 10.1016/j.jacc.2018.01.078. PMID: 29650123
Postema PG, Wilde AA
Curr Cardiol Rev 2014 Aug;10(3):287-94. doi: 10.2174/1573403x10666140514103612. PMID: 24827793Free PMC Article
Funk KA, Bostwick JR
Ann Pharmacother 2013 Oct;47(10):1330-41. Epub 2013 Oct 21 doi: 10.1177/1060028013501994. PMID: 24259697

Diagnosis

Viskin S, Chorin E, Viskin D, Hochstadt A, Schwartz AL, Rosso R
Circulation 2021 Sep 7;144(10):823-839. doi: 10.1161/CIRCULATIONAHA.121.055783. PMID: 34491774
Walsh R, Lahrouchi N, Tadros R, Kyndt F, Glinge C, Postema PG, Amin AS, Nannenberg EA, Ware JS, Whiffin N, Mazzarotto F, Škorić-Milosavljević D, Krijger C, Arbelo E, Babuty D, Barajas-Martinez H, Beckmann BM, Bézieau S, Bos JM, Breckpot J, Campuzano O, Castelletti S, Celen C, Clauss S, Corveleyn A, Crotti L, Dagradi F, de Asmundis C, Denjoy I, Dittmann S, Ellinor PT, Ortuño CG, Giustetto C, Gourraud JB, Hazeki D, Horie M, Ishikawa T, Itoh H, Kaneko Y, Kanters JK, Kimoto H, Kotta MC, Krapels IPC, Kurabayashi M, Lazarte J, Leenhardt A, Loeys BL, Lundin C, Makiyama T, Mansourati J, Martins RP, Mazzanti A, Mörner S, Napolitano C, Ohkubo K, Papadakis M, Rudic B, Molina MS, Sacher F, Sahin H, Sarquella-Brugada G, Sebastiano R, Sharma S, Sheppard MN, Shimamoto K, Shoemaker MB, Stallmeyer B, Steinfurt J, Tanaka Y, Tester DJ, Usuda K, van der Zwaag PA, Van Dooren S, Van Laer L, Winbo A, Winkel BG, Yamagata K, Zumhagen S, Volders PGA, Lubitz SA, Antzelevitch C, Platonov PG, Odening KE, Roden DM, Roberts JD, Skinner JR, Tfelt-Hansen J, van den Berg MP, Olesen MS, Lambiase PD, Borggrefe M, Hayashi K, Rydberg A, Nakajima T, Yoshinaga M, Saenen JB, Kääb S, Brugada P, Robyns T, Giachino DF, Ackerman MJ, Brugada R, Brugada J, Gimeno JR, Hasdemir C, Guicheney P, Priori SG, Schulze-Bahr E, Makita N, Schwartz PJ, Shimizu W, Aiba T, Schott JJ, Redon R, Ohno S, Probst V; Nantes Referral Center for inherited cardiac arrhythmia, Behr ER, Barc J, Bezzina CR
Genet Med 2021 Jan;23(1):47-58. Epub 2020 Sep 7 doi: 10.1038/s41436-020-00946-5. PMID: 32893267Free PMC Article
Mackley M, McGuire K, Taylor J, Watkins H, Ormondroyd E
Circ Genom Precis Med 2018 Oct;11(10):e002316. doi: 10.1161/CIRCGEN.118.002316. PMID: 30354302Free PMC Article
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ
Circulation 2009 Nov 3;120(18):1752-60. Epub 2009 Oct 19 doi: 10.1161/CIRCULATIONAHA.109.863076. PMID: 19841300Free PMC Article

Therapy

Bordet C, Garcia P, Salvo F, Touafchia A, Galinier M, Sommet A, Montastruc F
Psychopharmacology (Berl) 2023 Jan;240(1):199-202. Epub 2022 Dec 14 doi: 10.1007/s00213-022-06293-4. PMID: 36515735
Michaud V, Dow P, Al Rihani SB, Deodhar M, Arwood M, Cicali B, Turgeon J
Clin Transl Sci 2021 Jan;14(1):20-28. Epub 2020 Nov 18 doi: 10.1111/cts.12882. PMID: 32888379Free PMC Article
Zhang C, Kutyifa V, Moss AJ, McNitt S, Zareba W, Kaufman ES
J Cardiovasc Electrophysiol 2015 Oct;26(10):1039-44. Epub 2015 Aug 6 doi: 10.1111/jce.12739. PMID: 26149510Free PMC Article
Beach SR, Kostis WJ, Celano CM, Januzzi JL, Ruskin JN, Noseworthy PA, Huffman JC
J Clin Psychiatry 2014 May;75(5):e441-9. doi: 10.4088/JCP.13r08672. PMID: 24922496
Funk KA, Bostwick JR
Ann Pharmacother 2013 Oct;47(10):1330-41. Epub 2013 Oct 21 doi: 10.1177/1060028013501994. PMID: 24259697

Prognosis

Mazzanti A, Trancuccio A, Kukavica D, Pagan E, Wang M, Mohsin M, Peterson D, Bagnardi V, Zareba W, Priori SG
Europace 2022 Apr 5;24(4):614-619. doi: 10.1093/europace/euab238. PMID: 34505884
Tester DJ, Ackerman MJ
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):29-33. doi: 10.14797/mdcj-10-1-29. PMID: 24932360Free PMC Article
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Ware JS, Walsh R, Cunningham F, Birney E, Cook SA
Hum Mutat 2012 Aug;33(8):1188-1191. Epub 2012 Jun 7 doi: 10.1002/humu.22114. PMID: 22581653Free PMC Article
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ
Circulation 2009 Nov 3;120(18):1752-60. Epub 2009 Oct 19 doi: 10.1161/CIRCULATIONAHA.109.863076. PMID: 19841300Free PMC Article

Clinical prediction guides

Mazzanti A, Trancuccio A, Kukavica D, Pagan E, Wang M, Mohsin M, Peterson D, Bagnardi V, Zareba W, Priori SG
Europace 2022 Apr 5;24(4):614-619. doi: 10.1093/europace/euab238. PMID: 34505884
Tisdale JE, Jaynes HA, Kingery JR, Mourad NA, Trujillo TN, Overholser BR, Kovacs RJ
Circ Cardiovasc Qual Outcomes 2013 Jul;6(4):479-87. Epub 2013 May 28 doi: 10.1161/CIRCOUTCOMES.113.000152. PMID: 23716032Free PMC Article
Ware JS, Walsh R, Cunningham F, Birney E, Cook SA
Hum Mutat 2012 Aug;33(8):1188-1191. Epub 2012 Jun 7 doi: 10.1002/humu.22114. PMID: 22581653Free PMC Article
Kapa S, Tester DJ, Salisbury BA, Harris-Kerr C, Pungliya MS, Alders M, Wilde AA, Ackerman MJ
Circulation 2009 Nov 3;120(18):1752-60. Epub 2009 Oct 19 doi: 10.1161/CIRCULATIONAHA.109.863076. PMID: 19841300Free PMC Article
Tester DJ, Will ML, Haglund CM, Ackerman MJ
Heart Rhythm 2005 May;2(5):507-17. doi: 10.1016/j.hrthm.2005.01.020. PMID: 15840476

Recent systematic reviews

Mahendran S, Gupta I, Davis J, Davis AJ, Orchard JW, Orchard JJ
Clin Cardiol 2023 Sep;46(9):1106-1115. Epub 2023 Jul 20 doi: 10.1002/clc.24093. PMID: 37470093Free PMC Article
Krisai P, Vlachos K, Ramirez FD, Nakatani Y, Nakashima T, Takagi T, Kamakura T, Surget E, André C, Cheniti G, Welte N, Chauvel R, Tixier R, Duchateau J, Pambrun T, Derval N, Hocini M, Jaïs P, Haïssaguerre M, Sacher F
J Cardiovasc Electrophysiol 2020 Oct;31(10):2696-2701. Epub 2020 Jul 28 doi: 10.1111/jce.14687. PMID: 32700358
Zhang N, Gong M, Tse G, Zhang Z, Meng L, Yan BP, Zhang L, Wu G, Xia Y, Xin-Yan G, Li G, Liu T
Pacing Clin Electrophysiol 2018 Mar;41(3):321-327. Epub 2018 Feb 16 doi: 10.1111/pace.13292. PMID: 29380395
Tampi RR, Balderas M, Carter KV, Tampi DJ, Moca M, Knudsen A, May J
Psychosomatics 2015 Jan-Feb;56(1):36-43. Epub 2014 Sep 6 doi: 10.1016/j.psym.2014.09.002. PMID: 25619672
Chan A, Isbister GK, Kirkpatrick CM, Dufful SB
QJM 2007 Oct;100(10):609-15. Epub 2007 Sep 19 doi: 10.1093/qjmed/hcm072. PMID: 17881416

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