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Long QT syndrome 1(LQT1)

MedGen UID:
1641146
Concept ID:
C4551647
Disease or Syndrome
Synonym: LQT1
SNOMED CT: Romano-Ward syndrome (20852007)
 
Gene (location): KCNQ1 (11p15.5-15.4)
 
Monarch Initiative: MONDO:0100316
OMIM®: 192500

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

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).
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.
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.

Professional guidelines

PubMed

Costa J, Lopes CM, Barsheshet A, Moss AJ, Migdalovich D, Ouellet G, McNitt S, Polonsky S, Robinson JL, Zareba W, Ackerman MJ, Benhorin J, Kaufman ES, Platonov PG, Shimizu W, Towbin JA, Vincent GM, Wilde AA, Goldenberg I
Heart Rhythm 2012 Jun;9(6):892-8. Epub 2012 Jan 28 doi: 10.1016/j.hrthm.2012.01.020. PMID: 22293141Free PMC Article

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
McKinney J, Lithwick DJ, Morrison BN, Nazzari H, Luong M, Fordyce CB, Taunton J, Krahn AD, Heilbron B, Isserow S
Can J Cardiol 2017 Jan;33(1):155-161. Epub 2016 Jun 23 doi: 10.1016/j.cjca.2016.06.007. PMID: 27692657
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-858. Epub 2015 May 28 doi: 10.1111/jce.12686. PMID: 25872798
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844
Krahn AD, Yee R, Chauhan V, Skanes AC, Wang J, Hegele RA, Klein GJ
Am Heart J 2002 Mar;143(3):528-34. doi: 10.1067/mhj.2002.120408. PMID: 11868061

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
McKinney J, Lithwick DJ, Morrison BN, Nazzari H, Luong M, Fordyce CB, Taunton J, Krahn AD, Heilbron B, Isserow S
Can J Cardiol 2017 Jan;33(1):155-161. Epub 2016 Jun 23 doi: 10.1016/j.cjca.2016.06.007. PMID: 27692657
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-858. Epub 2015 May 28 doi: 10.1111/jce.12686. PMID: 25872798
Mikuni I, Torres CG, Bakshi T, Tampo A, Carlson BE, Bienengraeber MW, Kwok WM
Anesthesiology 2015 Apr;122(4):806-20. doi: 10.1097/ALN.0000000000000583. PMID: 25585005Free PMC Article
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844

Therapy

Rudic B, Tülümen E, Berlin V, Röger S, Stach K, Liebe V, El-Battrawy I, Dösch C, Papavassiliu T, Akin I, Borggrefe M, Kuschyk J
J Am Heart Assoc 2017 Oct 17;6(10) doi: 10.1161/JAHA.117.006265. PMID: 29042423Free PMC Article
Krahn AD, Yee R, Chauhan V, Skanes AC, Wang J, Hegele RA, Klein GJ
Am Heart J 2002 Mar;143(3):528-34. doi: 10.1067/mhj.2002.120408. PMID: 11868061

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
McKinney J, Lithwick DJ, Morrison BN, Nazzari H, Luong M, Fordyce CB, Taunton J, Krahn AD, Heilbron B, Isserow S
Can J Cardiol 2017 Jan;33(1):155-161. Epub 2016 Jun 23 doi: 10.1016/j.cjca.2016.06.007. PMID: 27692657
Zhang C, Kutyifa V, McNitt S, Zareba W, Goldenberg I, Moss AJ
J Cardiovasc Electrophysiol 2015 Aug;26(8):853-858. Epub 2015 May 28 doi: 10.1111/jce.12686. PMID: 25872798
Wong LC, Roses-Noguer F, Till JA, Behr ER
Circ Arrhythm Electrophysiol 2014 Oct;7(5):800-6. Epub 2014 Sep 6 doi: 10.1161/CIRCEP.114.001818. PMID: 25194972
Papadakis M, Raju H, Behr ER, De Noronha SV, Spath N, Kouloubinis A, Sheppard MN, Sharma S
Circ Arrhythm Electrophysiol 2013 Jun;6(3):588-96. Epub 2013 May 13 doi: 10.1161/CIRCEP.113.000111. PMID: 23671135

Clinical prediction guides

Kalayinia S, Dalili M, Pourirahim M, Maleki M, Mahdieh N
Eur J Med Res 2023 Jan 12;28(1):23. doi: 10.1186/s40001-023-00984-0. PMID: 36635780Free 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
Oertli A, Rinné S, Moss R, Kääb S, Seemann G, Beckmann BM, Decher N
Int J Mol Sci 2021 Jan 23;22(3) doi: 10.3390/ijms22031112. PMID: 33498651Free PMC Article
Mikuni I, Torres CG, Bakshi T, Tampo A, Carlson BE, Bienengraeber MW, Kwok WM
Anesthesiology 2015 Apr;122(4):806-20. doi: 10.1097/ALN.0000000000000583. PMID: 25585005Free PMC Article
Thomas D, Khalil M, Alter M, Schweizer PA, Karle CA, Wimmer AB, Licka M, Katus HA, Koenen M, Ulmer HE, Zehelein J
J Mol Cell Cardiol 2010 Jan;48(1):230-7. Epub 2009 Jun 21 doi: 10.1016/j.yjmcc.2009.06.009. PMID: 19540844

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