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Long QT syndrome 2(LQT2)

MedGen UID:
462293
Concept ID:
C3150943
Disease or Syndrome
Synonym: LQT2
 
Genes (locations): ALG10B (12q12); KCNH2 (7q36.1)
 
Monarch Initiative: MONDO:0013367
OMIM®: 613688

Definition

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). [from OMIM]

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).
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
An abrupt loss of heart function.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads 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.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
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).
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.
Notched T wave
MedGen UID:
416962
Concept ID:
C2347367
Finding
A bifid T-wave with a notch duration between the 2 peaks at least 0.04 sec and an amplitude at least 0.05 mV.

Professional guidelines

PubMed

Liu H, Jiang Z, Shen Y, Shao Y, Su Y, Wang D, Brugada R, Hong K
Pacing Clin Electrophysiol 2025 Mar;48(3):351-362. Epub 2025 Feb 6 doi: 10.1111/pace.15145. PMID: 39913104
Shimizu W, Moss AJ, Wilde AA, Towbin JA, Ackerman MJ, January CT, Tester DJ, Zareba W, Robinson JL, Qi M, Vincent GM, Kaufman ES, Hofman N, Noda T, Kamakura S, Miyamoto Y, Shah S, Amin V, Goldenberg I, Andrews ML, McNitt S
J Am Coll Cardiol 2009 Nov 24;54(22):2052-62. doi: 10.1016/j.jacc.2009.08.028. PMID: 19926013Free PMC Article

Recent clinical studies

Etiology

Crotti L, Neves R, Dagradi F, Musu G, Giannetti F, Bos JM, Barbieri M, Cerea P, Giovenzana FLF, Torchio M, Mura M, Gnecchi M, Conte G, Auricchio A, Sala L, Odening KE, Ackerman MJ, Schwartz PJ
Circulation 2024 Aug 13;150(7):531-543. Epub 2024 Jun 28 doi: 10.1161/CIRCULATIONAHA.124.068959. PMID: 38939955
Marstrand P, Almatlouh K, Kanters JK, Graff C, Christensen AH, Bundgaard H, Theilade J
Heart Rhythm 2021 Feb;18(2):241-249. Epub 2020 Aug 31 doi: 10.1016/j.hrthm.2020.08.017. PMID: 32882399
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
Steinberg C, Padfield GJ, Al-Sabeq B, Adler A, Yeung-Lai-Wah JA, Kerr CR, Deyell MW, Andrade JG, Bennett MT, Yee R, Klein GJ, Green M, Laksman ZW, Krahn AD, Chakrabarti S
J Interv Card Electrophysiol 2016 Nov;47(2):163-170. Epub 2016 Jul 9 doi: 10.1007/s10840-016-0161-2. PMID: 27394160
Koponen M, Marjamaa A, Hiippala A, Happonen JM, Havulinna AS, Salomaa V, Lahtinen AM, Hintsa T, Viitasalo M, Toivonen L, Kontula K, Swan H
Circ Arrhythm Electrophysiol 2015 Aug;8(4):815-23. Epub 2015 Jun 10 doi: 10.1161/CIRCEP.114.002654. PMID: 26063740

Diagnosis

Kulkarni VK, Pinsky AM, Bos JM, Neves R, Bains S, Giudicessi JR, Allison TG, Ackerman MJ
J Cardiovasc Electrophysiol 2025 Jan;36(1):17-23. Epub 2024 Oct 20 doi: 10.1111/jce.16471. PMID: 39428612
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
Steinberg C, Padfield GJ, Al-Sabeq B, Adler A, Yeung-Lai-Wah JA, Kerr CR, Deyell MW, Andrade JG, Bennett MT, Yee R, Klein GJ, Green M, Laksman ZW, Krahn AD, Chakrabarti S
J Interv Card Electrophysiol 2016 Nov;47(2):163-170. Epub 2016 Jul 9 doi: 10.1007/s10840-016-0161-2. PMID: 27394160
Schneider AE, Bos JM, Ackerman MJ
Congenit Heart Dis 2016 Sep;11(5):437-443. Epub 2016 Feb 17 doi: 10.1111/chd.12332. PMID: 26887900
Page A, Aktas MK, Soyata T, Zareba W, Couderc JP
Heart Rhythm 2016 Jan;13(1):190-8. Epub 2015 Aug 31 doi: 10.1016/j.hrthm.2015.08.037. PMID: 26334569Free PMC Article

Therapy

Crotti L, Neves R, Dagradi F, Musu G, Giannetti F, Bos JM, Barbieri M, Cerea P, Giovenzana FLF, Torchio M, Mura M, Gnecchi M, Conte G, Auricchio A, Sala L, Odening KE, Ackerman MJ, Schwartz PJ
Circulation 2024 Aug 13;150(7):531-543. Epub 2024 Jun 28 doi: 10.1161/CIRCULATIONAHA.124.068959. PMID: 38939955
Marstrand P, Almatlouh K, Kanters JK, Graff C, Christensen AH, Bundgaard H, Theilade J
Heart Rhythm 2021 Feb;18(2):241-249. Epub 2020 Aug 31 doi: 10.1016/j.hrthm.2020.08.017. PMID: 32882399
Mehta A, Ramachandra CJA, Singh P, Chitre A, Lua CH, Mura M, Crotti L, Wong P, Schwartz PJ, Gnecchi M, Shim W
Eur Heart J 2018 Apr 21;39(16):1446-1455. doi: 10.1093/eurheartj/ehx394. PMID: 29020304
Sugrue A, Rohatgi RK, Noseworthy PA, Kremen V, Bos JM, Qiang B, Sapir Y, Attia ZI, Scott CG, Brady P, Asirvatham SJ, Friedman PA, Ackerman MJ
Circ Arrhythm Electrophysiol 2017 Nov;10(11) doi: 10.1161/CIRCEP.117.005648. PMID: 29141844
Mehta A, Sequiera GL, Ramachandra CJ, Sudibyo Y, Chung Y, Sheng J, Wong KY, Tan TH, Wong P, Liew R, Shim W
Cardiovasc Res 2014 Jun 1;102(3):497-506. Epub 2014 Mar 12 doi: 10.1093/cvr/cvu060. PMID: 24623279

Prognosis

Kulkarni VK, Pinsky AM, Bos JM, Neves R, Bains S, Giudicessi JR, Allison TG, Ackerman MJ
J Cardiovasc Electrophysiol 2025 Jan;36(1):17-23. Epub 2024 Oct 20 doi: 10.1111/jce.16471. PMID: 39428612
Crotti L, Neves R, Dagradi F, Musu G, Giannetti F, Bos JM, Barbieri M, Cerea P, Giovenzana FLF, Torchio M, Mura M, Gnecchi M, Conte G, Auricchio A, Sala L, Odening KE, Ackerman MJ, Schwartz PJ
Circulation 2024 Aug 13;150(7):531-543. Epub 2024 Jun 28 doi: 10.1161/CIRCULATIONAHA.124.068959. PMID: 38939955
Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ
Heart Rhythm 2020 Feb;17(2):315-323. Epub 2019 Sep 5 doi: 10.1016/j.hrthm.2019.08.014. PMID: 31493592
Koponen M, Marjamaa A, Hiippala A, Happonen JM, Havulinna AS, Salomaa V, Lahtinen AM, Hintsa T, Viitasalo M, Toivonen L, Kontula K, Swan H
Circ Arrhythm Electrophysiol 2015 Aug;8(4):815-23. Epub 2015 Jun 10 doi: 10.1161/CIRCEP.114.002654. PMID: 26063740
Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ
Circ Cardiovasc Genet 2012 Oct 1;5(5):519-28. Epub 2012 Sep 4 doi: 10.1161/CIRCGENETICS.112.963785. PMID: 22949429Free PMC Article

Clinical prediction guides

Crotti L, Neves R, Dagradi F, Musu G, Giannetti F, Bos JM, Barbieri M, Cerea P, Giovenzana FLF, Torchio M, Mura M, Gnecchi M, Conte G, Auricchio A, Sala L, Odening KE, Ackerman MJ, Schwartz PJ
Circulation 2024 Aug 13;150(7):531-543. Epub 2024 Jun 28 doi: 10.1161/CIRCULATIONAHA.124.068959. PMID: 38939955
Marstrand P, Almatlouh K, Kanters JK, Graff C, Christensen AH, Bundgaard H, Theilade J
Heart Rhythm 2021 Feb;18(2):241-249. Epub 2020 Aug 31 doi: 10.1016/j.hrthm.2020.08.017. PMID: 32882399
Mattivi CL, Ye D, Tester DJ, Clemens DJ, Zhou W, Giudicessi JR, Ackerman MJ
Heart Rhythm 2020 Feb;17(2):315-323. Epub 2019 Sep 5 doi: 10.1016/j.hrthm.2019.08.014. PMID: 31493592
Steinberg C, Padfield GJ, Al-Sabeq B, Adler A, Yeung-Lai-Wah JA, Kerr CR, Deyell MW, Andrade JG, Bennett MT, Yee R, Klein GJ, Green M, Laksman ZW, Krahn AD, Chakrabarti S
J Interv Card Electrophysiol 2016 Nov;47(2):163-170. Epub 2016 Jul 9 doi: 10.1007/s10840-016-0161-2. PMID: 27394160
Giudicessi JR, Kapplinger JD, Tester DJ, Alders M, Salisbury BA, Wilde AA, Ackerman MJ
Circ Cardiovasc Genet 2012 Oct 1;5(5):519-28. Epub 2012 Sep 4 doi: 10.1161/CIRCGENETICS.112.963785. PMID: 22949429Free PMC Article

Recent systematic reviews

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

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