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Long QT syndrome(LQTS)

MedGen UID:
44193
Concept ID:
C0023976
Disease or Syndrome
Synonym: LQTS
SNOMED CT: Long Q-T syndrome (9651007); Long QT syndrome (9651007); Prolonged Q-T interval syndrome (9651007)
 
Genes (locations): KCNE1 (21q22.12); KCNE2 (21q22.11); KCNH2 (7q36.1); KCNQ1 (11p15.5-15.4); SCN5A (3p22.2)
Related genes: ALG10B, AKAP9, SNTA1, SCN4B, KCNJ5, CAV3
 
Monarch Initiative: MONDO:0002442
OMIM® Phenotypic series: PS192500

Disease characteristics

Excerpted from the GeneReview: Long QT Syndrome
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. [from GeneReviews]
Authors:
Mariëlle Alders  |  Hennie Bikker  |  Imke Christiaans   view full author information

Suggested Reading

PubMed

Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C; Document Reviewers., Ackerman M, Belhassen B, Estes NA 3rd, Fatkin D, Kalman J, Kaufman E, Kirchhof P, Schulze-Bahr E, Wolpert C, Vohra J, Refaat M, Etheridge SP, Campbell RM, Martin ET, Quek SC; Heart Rhythm Society.; European Heart Rhythm Association.; Asia Pacific Heart Rhythm Society.
Europace 2013 Oct;15(10):1389-406. Epub 2013 Aug 30 doi: 10.1093/europace/eut272. PMID: 23994779

Recent clinical studies

Etiology

Goldenberg I, Bos JM, Yoruk A, Chen AY, Lopes C, Huang DT, Kutyifa V, Younis A, Aktas MK, Z Rosero S, McNitt S, Sotoodehnia N, Kudenchuk PJ, Rea TD, Arking DE, Scott CG, Briske KA, Sorensen K, J Ackerman M, Zareba W
J Am Heart Assoc 2021 Jul 20;10(14):e021088. Epub 2021 Jul 9 doi: 10.1161/JAHA.121.021088. PMID: 34238014Free PMC Article
Lampridis S, Antonopoulos A, Kakos C, Mitsos S, Patrini D, Lawrence DR, Panagiotopoulos N
Asian Cardiovasc Thorac Ann 2021 Mar;29(3):186-190. Epub 2020 Oct 28 doi: 10.1177/0218492320971492. PMID: 33115260
Younis A, Aktas MK, Rosero S, Kutyifa V, Polonsky B, McNitt S, Sotoodehnia N, Kudenchuk P, Rea TD, Arking DE, Goldenberg I, Zareba W
J Am Heart Assoc 2020 Oct 20;9(19):e016398. Epub 2020 Sep 21 doi: 10.1161/JAHA.120.016398. PMID: 33021160Free PMC Article
Kojima A, Fukushima Y, Itoh H, Imoto K, Matsuura H
Eur J Pharmacol 2020 Sep 15;883:173378. Epub 2020 Jul 22 doi: 10.1016/j.ejphar.2020.173378. PMID: 32710951
Määttänen I, Ravaja N, Henttonen P, Puttonen S, Paavonen K, Swan H, Hintsa T
J Health Psychol 2020 Aug;25(9):1213-1221. Epub 2018 Jan 22 doi: 10.1177/1359105317751617. PMID: 29355047

Diagnosis

Lampridis S, Antonopoulos A, Kakos C, Mitsos S, Patrini D, Lawrence DR, Panagiotopoulos N
Asian Cardiovasc Thorac Ann 2021 Mar;29(3):186-190. Epub 2020 Oct 28 doi: 10.1177/0218492320971492. PMID: 33115260
Niaz T, Bos JM, Sorensen KB, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2020 Dec;13(12):e008830. Epub 2020 Nov 16 doi: 10.1161/CIRCEP.120.008830. PMID: 33198487
Takahashi K, Shimizu W, Makita N, Nakayashiro M
Pediatr Int 2020 Aug;62(8):899-906. Epub 2020 Aug 6 doi: 10.1111/ped.14319. PMID: 32449227Free PMC Article
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Määttänen I, Ravaja N, Henttonen P, Puttonen S, Paavonen K, Swan H, Hintsa T
J Health Psychol 2020 Aug;25(9):1213-1221. Epub 2018 Jan 22 doi: 10.1177/1359105317751617. PMID: 29355047

Therapy

Lampridis S, Antonopoulos A, Kakos C, Mitsos S, Patrini D, Lawrence DR, Panagiotopoulos N
Asian Cardiovasc Thorac Ann 2021 Mar;29(3):186-190. Epub 2020 Oct 28 doi: 10.1177/0218492320971492. PMID: 33115260
Niaz T, Bos JM, Sorensen KB, Moir C, Ackerman MJ
Circ Arrhythm Electrophysiol 2020 Dec;13(12):e008830. Epub 2020 Nov 16 doi: 10.1161/CIRCEP.120.008830. PMID: 33198487
Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ
Circulation 2020 Feb 11;141(6):429-439. Epub 2020 Jan 16 doi: 10.1161/CIRCULATIONAHA.119.043114. PMID: 31941373Free PMC Article
Cuneo BF, Kaizer AM, Clur SA, Swan H, Herberg U, Winbo A, Rydberg A, Haugaa K, Etheridge S, Ackerman MJ, Dagradi F, Killen SAS, Wacker-Gussmann A, Benson DW, Wilde AAM, Pan Z, Lam A, Spazzolini C, Horigome H, Schwartz PJ; Fetal LQTS Consortium.
Am J Obstet Gynecol 2020 Mar;222(3):263.e1-263.e11. Epub 2019 Sep 11 doi: 10.1016/j.ajog.2019.09.004. PMID: 31520628
Bos JM, Crotti L, Rohatgi RK, Castelletti S, Dagradi F, Schwartz PJ, Ackerman MJ
Circ Arrhythm Electrophysiol 2019 May;12(5):e007280. doi: 10.1161/CIRCEP.118.007280. PMID: 31006312

Prognosis

Goldenberg I, Bos JM, Yoruk A, Chen AY, Lopes C, Huang DT, Kutyifa V, Younis A, Aktas MK, Z Rosero S, McNitt S, Sotoodehnia N, Kudenchuk PJ, Rea TD, Arking DE, Scott CG, Briske KA, Sorensen K, J Ackerman M, Zareba W
J Am Heart Assoc 2021 Jul 20;10(14):e021088. Epub 2021 Jul 9 doi: 10.1161/JAHA.121.021088. PMID: 34238014Free PMC Article
Turkowski KL, Dotzler SM, Tester DJ, Giudicessi JR, Bos JM, Speziale AD, Vollenweider JM, Ackerman MJ
Circ Genom Precis Med 2020 Aug;13(4):e002922. Epub 2020 May 29 doi: 10.1161/CIRCGEN.120.002922. PMID: 32469608
Winbo A, Earle N, Marcondes L, Crawford J, Prosser DO, Love DR, Merriman TR, Cadzow M, Stiles R, Donoghue T, Stiles MK, Hayes I, Skinner JR
Heart Rhythm 2020 Aug;17(8):1304-1311. Epub 2020 Mar 27 doi: 10.1016/j.hrthm.2020.03.015. PMID: 32229296
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Giudicessi JR, Wilde AAM, Ackerman MJ
Trends Cardiovasc Med 2018 Oct;28(7):453-464. Epub 2018 Mar 30 doi: 10.1016/j.tcm.2018.03.003. PMID: 29661707Free PMC Article

Clinical prediction guides

Goldenberg I, Bos JM, Yoruk A, Chen AY, Lopes C, Huang DT, Kutyifa V, Younis A, Aktas MK, Z Rosero S, McNitt S, Sotoodehnia N, Kudenchuk PJ, Rea TD, Arking DE, Scott CG, Briske KA, Sorensen K, J Ackerman M, Zareba W
J Am Heart Assoc 2021 Jul 20;10(14):e021088. Epub 2021 Jul 9 doi: 10.1161/JAHA.121.021088. PMID: 34238014Free PMC Article
Turkowski KL, Dotzler SM, Tester DJ, Giudicessi JR, Bos JM, Speziale AD, Vollenweider JM, Ackerman MJ
Circ Genom Precis Med 2020 Aug;13(4):e002922. Epub 2020 May 29 doi: 10.1161/CIRCGEN.120.002922. PMID: 32469608
Fukuyama M, Ohno S, Ozawa J, Kato K, Makiyama T, Nakagawa Y, Horie M
Circ J 2020 Mar 25;84(4):559-568. Epub 2020 Mar 12 doi: 10.1253/circj.CJ-19-1101. PMID: 32161207
Roberts JD, Asaki SY, Mazzanti A, Bos JM, Tuleta I, Muir AR, Crotti L, Krahn AD, Kutyifa V, Shoemaker MB, Johnsrude CL, Aiba T, Marcondes L, Baban A, Udupa S, Dechert B, Fischbach P, Knight LM, Vittinghoff E, Kukavica D, Stallmeyer B, Giudicessi JR, Spazzolini C, Shimamoto K, Tadros R, Cadrin-Tourigny J, Duff HJ, Simpson CS, Roston TM, Wijeyeratne YD, El Hajjaji I, Yousif MD, Gula LJ, Leong-Sit P, Chavali N, Landstrom AP, Marcus GM, Dittmann S, Wilde AAM, Behr ER, Tfelt-Hansen J, Scheinman MM, Perez MV, Kaski JP, Gow RM, Drago F, Aziz PF, Abrams DJ, Gollob MH, Skinner JR, Shimizu W, Kaufman ES, Roden DM, Zareba W, Schwartz PJ, Schulze-Bahr E, Etheridge SP, Priori SG, Ackerman MJ
Circulation 2020 Feb 11;141(6):429-439. Epub 2020 Jan 16 doi: 10.1161/CIRCULATIONAHA.119.043114. PMID: 31941373Free PMC Article
Cuneo BF, Kaizer AM, Clur SA, Swan H, Herberg U, Winbo A, Rydberg A, Haugaa K, Etheridge S, Ackerman MJ, Dagradi F, Killen SAS, Wacker-Gussmann A, Benson DW, Wilde AAM, Pan Z, Lam A, Spazzolini C, Horigome H, Schwartz PJ; Fetal LQTS Consortium.
Am J Obstet Gynecol 2020 Mar;222(3):263.e1-263.e11. Epub 2019 Sep 11 doi: 10.1016/j.ajog.2019.09.004. PMID: 31520628

Recent systematic reviews

Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Sgrò A, Drake TM, Lopez-Ayala P, Phan K
Congenit Heart Dis 2019 Nov;14(6):1102-1112. Epub 2019 Oct 16 doi: 10.1111/chd.12855. PMID: 31621201
Surman TL, Stuklis RG, Chan JC
Heart Lung Circ 2019 Mar;28(3):486-494. Epub 2018 Feb 13 doi: 10.1016/j.hlc.2018.02.005. PMID: 29525134
Tse G, Gong M, Meng L, Wong CW, Georgopoulos S, Bazoukis G, Wong MCS, Letsas KP, Vassiliou VS, Xia Y, Baranchuk AM, Yan GX, Liu T
J Electrocardiol 2018 May - Jun;51(3):396-401. Epub 2018 Mar 6 doi: 10.1016/j.jelectrocard.2018.03.001. PMID: 29550106
Gonzalez FM, Veneziano MA, Puggina A, Boccia S
Value Health 2015 Jul;18(5):700-8. Epub 2015 May 16 doi: 10.1016/j.jval.2015.03.1788. PMID: 26297099

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