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Long QT syndrome 5(LQT5)

MedGen UID:
358092
Concept ID:
C1867904
Disease or Syndrome
Synonym: LQT5
 
Gene (location): KCNE1 (21q22.12)
 
Monarch Initiative: MONDO:0013372
OMIM®: 613695

Authors:
Alexander J Groffen  |  Hennie Bikker  |  Imke Christiaans   view full author information

Additional descriptions

From GeneReviews Overview
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 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/613695

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 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.
Torsade 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.
Sinus bradycardia
MedGen UID:
39316
Concept ID:
C0085610
Pathologic Function
Bradycardia related to a mean resting sinus rate of less than 50 beats per minute.
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.

Recent clinical studies

Etiology

Garmany R, Giudicessi JR, Ye D, Zhou W, Tester DJ, Ackerman MJ
Heart Rhythm 2020 Jun;17(6):937-944. Epub 2020 Feb 10 doi: 10.1016/j.hrthm.2020.02.003. PMID: 32058015
Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ
Heart Rhythm 2018 Aug;15(8):1223-1230. Epub 2018 Apr 3 doi: 10.1016/j.hrthm.2018.03.038. PMID: 29625280Free PMC Article
Major P, Baczkó I, Hiripi L, Odening KE, Juhász V, Kohajda Z, Horváth A, Seprényi G, Kovács M, Virág L, Jost N, Prorok J, Ördög B, Doleschall Z, Nattel S, Varró A, Bősze Z
Br J Pharmacol 2016 Jun;173(12):2046-61. Epub 2016 May 19 doi: 10.1111/bph.13500. PMID: 27076034Free PMC Article

Diagnosis

Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ
Heart Rhythm 2018 Aug;15(8):1223-1230. Epub 2018 Apr 3 doi: 10.1016/j.hrthm.2018.03.038. PMID: 29625280Free PMC Article
Snipelisky D, Roberts M, Blackshear J
JAMA Intern Med 2014 Nov;174(11):1831-3. doi: 10.1001/jamainternmed.2014.4047. PMID: 25178485

Therapy

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
Snipelisky D, Roberts M, Blackshear J
JAMA Intern Med 2014 Nov;174(11):1831-3. doi: 10.1001/jamainternmed.2014.4047. PMID: 25178485

Prognosis

Garmany R, Giudicessi JR, Ye D, Zhou W, Tester DJ, Ackerman MJ
Heart Rhythm 2020 Jun;17(6):937-944. Epub 2020 Feb 10 doi: 10.1016/j.hrthm.2020.02.003. PMID: 32058015
Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ
Heart Rhythm 2018 Aug;15(8):1223-1230. Epub 2018 Apr 3 doi: 10.1016/j.hrthm.2018.03.038. PMID: 29625280Free PMC Article
Major P, Baczkó I, Hiripi L, Odening KE, Juhász V, Kohajda Z, Horváth A, Seprényi G, Kovács M, Virág L, Jost N, Prorok J, Ördög B, Doleschall Z, Nattel S, Varró A, Bősze Z
Br J Pharmacol 2016 Jun;173(12):2046-61. Epub 2016 May 19 doi: 10.1111/bph.13500. PMID: 27076034Free PMC Article

Clinical prediction guides

Garmany R, Giudicessi JR, Ye D, Zhou W, Tester DJ, Ackerman MJ
Heart Rhythm 2020 Jun;17(6):937-944. Epub 2020 Feb 10 doi: 10.1016/j.hrthm.2020.02.003. PMID: 32058015
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
Lane CM, Giudicessi JR, Ye D, Tester DJ, Rohatgi RK, Bos JM, Ackerman MJ
Heart Rhythm 2018 Aug;15(8):1223-1230. Epub 2018 Apr 3 doi: 10.1016/j.hrthm.2018.03.038. PMID: 29625280Free PMC Article
Major P, Baczkó I, Hiripi L, Odening KE, Juhász V, Kohajda Z, Horváth A, Seprényi G, Kovács M, Virág L, Jost N, Prorok J, Ördög B, Doleschall Z, Nattel S, Varró A, Bősze Z
Br J Pharmacol 2016 Jun;173(12):2046-61. Epub 2016 May 19 doi: 10.1111/bph.13500. PMID: 27076034Free PMC Article

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