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Long QT syndrome 13(LQT13)

MedGen UID:
462083
Concept ID:
C3150733
Disease or Syndrome
Synonym: LQT13
 
Gene (location): KCNJ5 (11q24.3)
 
Monarch Initiative: MONDO:0013279
OMIM®: 613485

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 OMIM
Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500).  http://www.omim.org/entry/613485

Clinical features

From HPO
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.
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction.
Palpitations
MedGen UID:
14579
Concept ID:
C0030252
Finding
A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia.
Pulmonary embolism
MedGen UID:
11027
Concept ID:
C0034065
Pathologic Function
An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Torsades de pointes
MedGen UID:
21214
Concept ID:
C0040479
Disease or Syndrome
A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.
Prolonged QTc interval
MedGen UID:
294666
Concept ID:
C1560305
Pathologic Function
A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations.
Permanent atrial fibrillation
MedGen UID:
750308
Concept ID:
C2586056
Pathologic Function
Atrial fibrillation (AF) that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent.
Reduced left ventricular ejection fraction
MedGen UID:
868398
Concept ID:
C4022792
Finding
A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle.

Professional guidelines

PubMed

Spoonamore KG, Ware SM
Heart Rhythm 2016 Mar;13(3):789-97. Epub 2015 Nov 12 doi: 10.1016/j.hrthm.2015.11.013. PMID: 26582592
Shimizu W
Circ J 2013;77(12):2867-72. Epub 2013 Nov 7 doi: 10.1253/circj.cj-13-1217. PMID: 24200848
Collins S, Widger J, Davis A, Massie J
Paediatr Respir Rev 2012 Jun;13(2):100-5. Epub 2011 Mar 10 doi: 10.1016/j.prrv.2011.02.003. PMID: 22475256

Recent clinical studies

Etiology

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
D'Imperio S, Monasky MM, Micaglio E, Negro G, Pappone C
Nutrients 2021 Jul 21;13(8) doi: 10.3390/nu13082482. PMID: 34444641Free PMC Article
Al-Azaam B, Darbar D
Card Electrophysiol Clin 2021 Mar;13(1):155-163. Epub 2021 Jan 8 doi: 10.1016/j.ccep.2020.10.004. PMID: 33516393Free 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
Sanguinetti MC
Pflugers Arch 2010 Jul;460(2):265-76. Epub 2009 Nov 22 doi: 10.1007/s00424-009-0758-8. PMID: 20544339Free PMC Article

Diagnosis

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
Al-Azaam B, Darbar D
Card Electrophysiol Clin 2021 Mar;13(1):155-163. Epub 2021 Jan 8 doi: 10.1016/j.ccep.2020.10.004. PMID: 33516393Free PMC Article
Asai T, Adachi N, Moriya T, Oki H, Maru T, Kawasaki M, Suzuki K, Chen S, Ishii R, Yonemori K, Igaki S, Yasuda S, Ogasawara S, Senda T, Murata T
Structure 2021 Mar 4;29(3):203-212.e4. Epub 2021 Jan 14 doi: 10.1016/j.str.2020.12.007. PMID: 33450182
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
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

Therapy

Tereshchenko LG, Pourbemany J, Haq KT, Patel H, Hyde J, Quadri S, Ibrahim H, Tongpoon A, Pourbemany R, Khan A
J Electrocardiol 2023 Jul-Aug;79:61-65. Epub 2023 Mar 20 doi: 10.1016/j.jelectrocard.2023.03.010. PMID: 36963283Free PMC Article
Medeiros P, Santos M, Arantes C, Pereira VH, Rocha S
Heart Lung 2023 Jul-Aug;60:1-7. Epub 2023 Feb 28 doi: 10.1016/j.hrtlng.2023.02.012. PMID: 36863123
D'Imperio S, Monasky MM, Micaglio E, Negro G, Pappone C
Nutrients 2021 Jul 21;13(8) doi: 10.3390/nu13082482. PMID: 34444641Free 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
Edinoff A, Ruoff MT, Ghaffar YT, Rezayev A, Jani D, Kaye AM, Cornett EM, Kaye AD, Viswanath O, Urits I
Psychopharmacol Bull 2020 Sep 14;50(4):83-117. PMID: 33012874Free PMC Article

Prognosis

Koh Y, Voskoboinik A, Neil C
Heart Lung Circ 2022 Aug;31(8):1075-1084. Epub 2022 May 11 doi: 10.1016/j.hlc.2022.03.010. PMID: 35562239
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
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
El-Battrawy I, Besler J, Ansari U, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Odening K, Cyganek L, Wolpert C, Zhou X, Borggrefe M, Akin I
Clin Res Cardiol 2019 Oct;108(10):1140-1146. Epub 2019 Mar 16 doi: 10.1007/s00392-019-01449-3. PMID: 30879093
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

Clinical prediction guides

Nauffal V, Morrill VN, Jurgens SJ, Choi SH, Hall AW, Weng LC, Halford JL, Austin-Tse C, Haggerty CM, Harris SL, Wong EK, Alonso A, Arking DE, Benjamin EJ, Boerwinkle E, Min YI, Correa A, Fornwalt BK, Heckbert SR; National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Consortium, Kooperberg C, Lin HJ, J F Loos R, Rice KM, Gupta N, Blackwell TW, Mitchell BD, Morrison AC, Psaty BM, Post WS, Redline S, Rehm HL, Rich SS, Rotter JI, Soliman EZ, Sotoodehnia N, Lunetta KL, Ellinor PT, Lubitz SA; TOPMed Investigators
Circulation 2022 May 17;145(20):1524-1533. Epub 2022 Apr 7 doi: 10.1161/CIRCULATIONAHA.121.057261. PMID: 35389749Free PMC Article
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
Edinoff A, Ruoff MT, Ghaffar YT, Rezayev A, Jani D, Kaye AM, Cornett EM, Kaye AD, Viswanath O, Urits I
Psychopharmacol Bull 2020 Sep 14;50(4):83-117. PMID: 33012874Free PMC Article
Schwartz PJ, Woosley RL
J Am Coll Cardiol 2016 Apr 5;67(13):1639-1650. doi: 10.1016/j.jacc.2015.12.063. PMID: 27150690
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

Recent systematic reviews

Medeiros P, Santos M, Arantes C, Pereira VH, Rocha S
Heart Lung 2023 Jul-Aug;60:1-7. Epub 2023 Feb 28 doi: 10.1016/j.hrtlng.2023.02.012. PMID: 36863123
Lawley CM, Tester M, Sanatani S, Prendiville T, Beach CM, Vinocur JM, Horie M, Uhm JS, Khongphatthanayothin A, Ayers MD, Starling L, Yoshida Y, Shah MJ, Skinner JR, Turner C
Heart Rhythm 2022 Nov;19(11):1826-1833. Epub 2022 Oct 11 doi: 10.1016/j.hrthm.2022.08.003. PMID: 37850595
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
Olde Nordkamp LR, Postema PG, Knops RE, van Dijk N, Limpens J, Wilde AA, de Groot JR
Heart Rhythm 2016 Feb;13(2):443-54. Epub 2015 Sep 15 doi: 10.1016/j.hrthm.2015.09.010. PMID: 26385533
Johnston J, Pal S, Nagele P
Anesth Analg 2013 Sep;117(3):559-564. Epub 2013 Jun 6 doi: 10.1213/ANE.0b013e318290c380. PMID: 23744954Free PMC Article

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