U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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); TRDN (6q22.31)
Related genes: ALG10B, AKAP9, SNTA1, SCN4B, KCNJ5, CAV3
 
Monarch Initiative: MONDO:0002442

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

Additional description

From MedlinePlus Genetics
Romano-Ward syndrome is a condition that causes a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. The term "long QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (ECG or EKG), which is a test used to measure the electrical activity of the heart. In people with long QT syndrome, the part of the heartbeat known as the QT interval is abnormally long. Abnormalities in the time it takes to recharge the heart lead to abnormal heart rhythms.

The arrhythmia associated with Romano-Ward syndrome can lead to fainting (syncope) or cardiac arrest and sudden death. However, some people with Romano-Ward syndrome never experience any health problems associated with the condition.

Fifteen types of long QT syndrome have been defined based on their genetic cause. Some types of long QT syndrome involve other cardiac abnormalities or problems with additional body systems. Romano-Ward syndrome encompasses those types that involve only a long QT interval without other abnormalities.  https://medlineplus.gov/genetics/condition/romano-ward-syndrome

Professional guidelines

PubMed

Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Kaufman ES, Eckhardt LL, Ackerman MJ, Aziz PF, Behr ER, Cerrone M, Chung MK, Cutler MJ, Etheridge SP, Krahn AD, Lubitz SA, Perez MV, Priori SG, Roberts JD, Roden DM, Schulze-Bahr E, Schwartz PJ, Shimizu W, Shoemaker MB, Sy RW, Towbin JA, Viskin S, A M Wilde A, Zareba W
Circ Arrhythm Electrophysiol 2021 Jul;14(7):e009726. Epub 2021 Jul 9 doi: 10.1161/CIRCEP.120.009726. PMID: 34238011Free PMC Article

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

Wilde AAM, Amin AS, Postema PG
Heart 2022 Mar;108(5):332-338. Epub 2021 May 26 doi: 10.1136/heartjnl-2020-318259. PMID: 34039680Free PMC Article
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Wallace E, Howard L, Liu M, O'Brien T, Ward D, Shen S, Prendiville T
Pediatr Cardiol 2019 Oct;40(7):1419-1430. Epub 2019 Aug 22 doi: 10.1007/s00246-019-02151-x. PMID: 31440766Free PMC Article
Shah SR, Park K, Alweis R
Curr Probl Cardiol 2019 Mar;44(3):92-106. Epub 2018 May 10 doi: 10.1016/j.cpcardiol.2018.04.002. PMID: 29784533
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

Diagnosis

Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Wallace E, Howard L, Liu M, O'Brien T, Ward D, Shen S, Prendiville T
Pediatr Cardiol 2019 Oct;40(7):1419-1430. Epub 2019 Aug 22 doi: 10.1007/s00246-019-02151-x. PMID: 31440766Free PMC Article
Shah SR, Park K, Alweis R
Curr Probl Cardiol 2019 Mar;44(3):92-106. Epub 2018 May 10 doi: 10.1016/j.cpcardiol.2018.04.002. PMID: 29784533
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
Schwartz PJ, Crotti L, Insolia R
Circ Arrhythm Electrophysiol 2012 Aug 1;5(4):868-77. doi: 10.1161/CIRCEP.111.962019. PMID: 22895603Free PMC Article

Therapy

Marcinkeviciene A, Rinkuniene D, Puodziukynas A
Medicina (Kaunas) 2022 Nov 21;58(11) doi: 10.3390/medicina58111694. PMID: 36422233Free PMC Article
Zeng L, Xu P, Choonara I, Bo Z, Pan X, Li W, Ni X, Xiong T, Chen C, Huang L, Qazi SA, Mu D, Zhang L
Eur J Clin Pharmacol 2020 Dec;76(12):1709-1721. Epub 2020 Jul 17 doi: 10.1007/s00228-020-02956-3. PMID: 32681202Free PMC Article
Adamos G, Iacovidou N, Xanthos T
Mini Rev Med Chem 2018;18(6):495-506. doi: 10.2174/1389557517666170707110000. PMID: 28685698
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118
Briasoulis A, Agarwal V, Pierce WJ
Cardiology 2011;120(2):103-10. Epub 2011 Dec 13 doi: 10.1159/000334441. PMID: 22156660

Prognosis

Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, Chugh SS, Cornel MC, Gardner K, Ingles J, James CA, Jimmy Juang JM, Kääb S, Kaufman ES, Krahn AD, Lubitz SA, MacLeod H, Morillo CA, Nademanee K, Probst V, Saarel EV, Sacilotto L, Semsarian C, Sheppard MN, Shimizu W, Skinner JR, Tfelt-Hansen J, Wang DW
Heart Rhythm 2021 Jan;18(1):e1-e50. Epub 2020 Oct 19 doi: 10.1016/j.hrthm.2020.10.010. PMID: 33091602Free PMC Article
Zeng L, Xu P, Choonara I, Bo Z, Pan X, Li W, Ni X, Xiong T, Chen C, Huang L, Qazi SA, Mu D, Zhang L
Eur J Clin Pharmacol 2020 Dec;76(12):1709-1721. Epub 2020 Jul 17 doi: 10.1007/s00228-020-02956-3. PMID: 32681202Free PMC Article
Van Niekerk C, Van Deventer BS, du Toit-Prinsloo L
J Clin Pathol 2017 Sep;70(9):808-813. Epub 2017 Jun 29 doi: 10.1136/jclinpath-2016-204199. PMID: 28663329
Jeevaratnam K, Chadda KR, Salvage SC, Valli H, Ahmad S, Grace AA, Huang CL
Clin Exp Pharmacol Physiol 2017 Dec;44 Suppl 1(Suppl Suppl 1):38-45. Epub 2017 Sep 20 doi: 10.1111/1440-1681.12721. PMID: 28024120Free PMC Article
Wolbrette D, Patel H
Curr Opin Cardiol 1999 Jan;14(1):36-43. doi: 10.1097/00001573-199901000-00007. PMID: 9932206

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
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V, Horie M, Wilde AA, Tanck MWT, Bezzina CR
Circulation 2020 Jul 28;142(4):324-338. Epub 2020 May 20 doi: 10.1161/CIRCULATIONAHA.120.045956. PMID: 32429735Free PMC Article
Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M
Eur Heart J 2016 May 7;37(18):1456-64. Epub 2015 Dec 28 doi: 10.1093/eurheartj/ehv695. PMID: 26715165Free PMC Article
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

Recent systematic reviews

Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Beach SR, Gross AF, Hartney KE, Taylor JB, Rundell JR
Gen Hosp Psychiatry 2020 Nov-Dec;67:42-50. Epub 2020 Aug 22 doi: 10.1016/j.genhosppsych.2020.08.008. PMID: 32979582
Zeng L, Xu P, Choonara I, Bo Z, Pan X, Li W, Ni X, Xiong T, Chen C, Huang L, Qazi SA, Mu D, Zhang L
Eur J Clin Pharmacol 2020 Dec;76(12):1709-1721. Epub 2020 Jul 17 doi: 10.1007/s00228-020-02956-3. PMID: 32681202Free PMC Article
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
Vandael E, Vandenberk B, Vandenberghe J, Willems R, Foulon V
Int J Clin Pharm 2017 Feb;39(1):16-25. Epub 2016 Dec 23 doi: 10.1007/s11096-016-0414-2. PMID: 28012118

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...