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Long QT syndrome 13(LQT13)

MedGen UID:
462083
Concept ID:
C3150733
Disease or Syndrome
Synonyms: LQT13
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): KCNJ5 (11q24.3)
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 ECG 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

Atrioventricular block
MedGen UID:
13956
Concept ID:
C0004245
Disease or Syndrome
An electrocardiographic finding of delayed or blocked cardiac electrical impulse conduction from the atria to the ventricles at the level of the atrioventricular node.
Cardiac arrest
MedGen UID:
5456
Concept ID:
C0018790
Finding
Cessation of heart beat or MYOCARDIAL CONTRACTION. If it is treated within a few minutes, heart arrest can be reversed in most cases to normal cardiac rhythm and effective circulation.
Congestive heart failure
MedGen UID:
9169
Concept ID:
C0018802
Disease or Syndrome
Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
Hypertension
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
Blood pressure that is abnormally high.
Pulmonary embolism
MedGen UID:
11027
Concept ID:
C0034065
Disease or Syndrome
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
A spontaneous loss of consciousness caused by insufficient blood supply to the brain.
Prolonged QT interval
MedGen UID:
57494
Concept ID:
C0151878
Finding
An electrocardiographic finding in which the QT interval not corrected for heart rate is prolonged. Thresholds for different age, gender, and patient populations exist. (CDISC)
Paroxysmal atrial fibrillation
MedGen UID:
115990
Concept ID:
C0235480
Disease or Syndrome
A disorder characterized by an electrocardiographic finding of episodic atrial fibrillation with abrupt onset and termination.
Coronary artery disease
MedGen UID:
365486
Concept ID:
C1956346
Disease or Syndrome
Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)

Recent clinical studies

Etiology

Yu H, Zhang L, Liu J, Liu Y, Kowey PR, Zhang Y, Chen Y, Wei Y, Gao L, Li H, Du J, Xia Y
Heart Rhythm 2017 Jul;14(7):974-978. Epub 2017 Mar 18 doi: 10.1016/j.hrthm.2017.03.014. PMID: 28323171
Hof T, Liu H, Sallé L, Schott JJ, Ducreux C, Millat G, Chevalier P, Probst V, Guinamard R, Bouvagnet P
BMC Med Genet 2017 Mar 18;18(1):31. doi: 10.1186/s12881-017-0397-4. PMID: 28315637Free PMC Article
Ogawa Y, Tanaka T, Kido S
Pediatr Int 2016 Nov;58(11):1246-1248. doi: 10.1111/ped.13120. PMID: 27882731
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
ter Bekke RM, Haugaa KH, van den Wijngaard A, Bos JM, Ackerman MJ, Edvardsen T, Volders PG
Eur Heart J 2015 Jan 14;36(3):179-86. Epub 2014 Sep 8 doi: 10.1093/eurheartj/ehu370. PMID: 25205533

Diagnosis

Yu H, Zhang L, Liu J, Liu Y, Kowey PR, Zhang Y, Chen Y, Wei Y, Gao L, Li H, Du J, Xia Y
Heart Rhythm 2017 Jul;14(7):974-978. Epub 2017 Mar 18 doi: 10.1016/j.hrthm.2017.03.014. PMID: 28323171
Chae H, Kim J, Lee GD, Jang W, Park J, Jekarl DW, Oh YS, Kim M, Kim Y
Clin Chim Acta 2017 Jan;464:128-135. Epub 2016 Nov 18 doi: 10.1016/j.cca.2016.11.013. PMID: 27871843
Ogawa Y, Tanaka T, Kido S
Pediatr Int 2016 Nov;58(11):1246-1248. doi: 10.1111/ped.13120. PMID: 27882731
Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr
Heart Rhythm 2016 Oct;13(10):2012-9. Epub 2016 Jul 1 doi: 10.1016/j.hrthm.2016.06.038. PMID: 27374306Free PMC Article
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

Gray B, Ingles J, Medi C, Driscoll T, Semsarian C
Int J Cardiol 2017 Mar 15;231:150-154. doi: 10.1016/j.ijcard.2016.12.019. PMID: 28189188
Waddell-Smith KE, Li J, Smith W, Crawford J, Skinner JR; Cardiac Inherited Disease Group New Zealand.
Circ Arrhythm Electrophysiol 2016 Aug;9(8) doi: 10.1161/CIRCEP.115.003591. PMID: 27516460
Gaba P, Bos JM, Cannon BC, Cha YM, Friedman PA, Asirvatham SJ, Ackerman MJ
Heart Rhythm 2016 Apr;13(4):879-85. Epub 2015 Dec 8 doi: 10.1016/j.hrthm.2015.12.008. PMID: 26681611
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
ter Bekke RM, Haugaa KH, van den Wijngaard A, Bos JM, Ackerman MJ, Edvardsen T, Volders PG
Eur Heart J 2015 Jan 14;36(3):179-86. Epub 2014 Sep 8 doi: 10.1093/eurheartj/ehu370. PMID: 25205533

Prognosis

Hof T, Liu H, Sallé L, Schott JJ, Ducreux C, Millat G, Chevalier P, Probst V, Guinamard R, Bouvagnet P
BMC Med Genet 2017 Mar 18;18(1):31. doi: 10.1186/s12881-017-0397-4. PMID: 28315637Free PMC Article
Cortez D, Bos JM, Ackerman MJ
Heart Rhythm 2017 Jun;14(6):894-899. Epub 2017 Mar 6 doi: 10.1016/j.hrthm.2017.03.003. PMID: 28279743
Ogawa Y, Tanaka T, Kido S
Pediatr Int 2016 Nov;58(11):1246-1248. doi: 10.1111/ped.13120. PMID: 27882731
Pipilas DC, Johnson CN, Webster G, Schlaepfer J, Fellmann F, Sekarski N, Wren LM, Ogorodnik KV, Chazin DM, Chazin WJ, Crotti L, Bhuiyan ZA, George AL Jr
Heart Rhythm 2016 Oct;13(10):2012-9. Epub 2016 Jul 1 doi: 10.1016/j.hrthm.2016.06.038. PMID: 27374306Free PMC Article
ter Bekke RM, Haugaa KH, van den Wijngaard A, Bos JM, Ackerman MJ, Edvardsen T, Volders PG
Eur Heart J 2015 Jan 14;36(3):179-86. Epub 2014 Sep 8 doi: 10.1093/eurheartj/ehu370. PMID: 25205533

Clinical prediction guides

Hof T, Liu H, Sallé L, Schott JJ, Ducreux C, Millat G, Chevalier P, Probst V, Guinamard R, Bouvagnet P
BMC Med Genet 2017 Mar 18;18(1):31. doi: 10.1186/s12881-017-0397-4. PMID: 28315637Free PMC Article
Cortez D, Bos JM, Ackerman MJ
Heart Rhythm 2017 Jun;14(6):894-899. Epub 2017 Mar 6 doi: 10.1016/j.hrthm.2017.03.003. PMID: 28279743
Bodi I, Grünert SC, Becker N, Stoelzle-Feix S, Spiekerkoetter U, Zehender M, Bugger H, Bode C, Odening KE
Heart Rhythm 2016 Jun;13(6):1335-45. Epub 2016 Feb 27 doi: 10.1016/j.hrthm.2016.02.003. PMID: 26854997
ter Bekke RM, Haugaa KH, van den Wijngaard A, Bos JM, Ackerman MJ, Edvardsen T, Volders PG
Eur Heart J 2015 Jan 14;36(3):179-86. Epub 2014 Sep 8 doi: 10.1093/eurheartj/ehu370. PMID: 25205533
Wang F, Liu J, Hong L, Liang B, Graff C, Yang Y, Christiansen M, Olesen SP, Zhang L, Kanters JK
Heart Rhythm 2013 Oct;10(10):1500-6. Epub 2013 Jul 18 doi: 10.1016/j.hrthm.2013.07.022. PMID: 23872692

Recent systematic reviews

Gotta V, Cools F, van Ammel K, Gallacher DJ, Visser SA, Sannajust F, Morissette P, Danhof M, van der Graaf PH
Br J Pharmacol 2015 Sep;172(17):4364-79. Epub 2015 Jul 21 doi: 10.1111/bph.13218. PMID: 26076100Free PMC Article
Avery CL, Sitlani CM, Arking DE, Arnett DK, Bis JC, Boerwinkle E, Buckley BM, Ida Chen YD, de Craen AJ, Eijgelsheim M, Enquobahrie D, Evans DS, Ford I, Garcia ME, Gudnason V, Harris TB, Heckbert SR, Hochner H, Hofman A, Hsueh WC, Isaacs A, Jukema JW, Knekt P, Kors JA, Krijthe BP, Kristiansson K, Laaksonen M, Liu Y, Li X, Macfarlane PW, Newton-Cheh C, Nieminen MS, Oostra BA, Peloso GM, Porthan K, Rice K, Rivadeneira FF, Rotter JI, Salomaa V, Sattar N, Siscovick DS, Slagboom PE, Smith AV, Sotoodehnia N, Stott DJ, Stricker BH, Stürmer T, Trompet S, Uitterlinden AG, van Duijn C, Westendorp RG, Witteman JC, Whitsel EA, Psaty BM
Pharmacogenomics J 2014 Feb;14(1):6-13. Epub 2013 Mar 5 doi: 10.1038/tpj.2013.4. PMID: 23459443Free PMC Article
Zhang Y, Ouyang P, Post WS, Dalal D, Vaidya D, Blasco-Colmenares E, Soliman EZ, Tomaselli GF, Guallar E
Am J Epidemiol 2011 Aug 15;174(4):403-11. Epub 2011 Jul 18 doi: 10.1093/aje/kwr172. PMID: 21768401Free PMC Article
Vieweg WV, Wood MA, Fernandez A, Beatty-Brooks M, Hasnain M, Pandurangi AK
Drugs Aging 2009;26(12):997-1012. doi: 10.2165/11318880-000000000-00000. PMID: 19929028
Zellerhoff S, Pistulli R, Mönnig G, Hinterseer M, Beckmann BM, Köbe J, Steinbeck G, Kääb S, Haverkamp W, Fabritz L, Gradaus R, Breithardt G, Schulze-Bahr E, Böcker D, Kirchhof P
J Cardiovasc Electrophysiol 2009 Apr;20(4):401-7. Epub 2008 Oct 27 doi: 10.1111/j.1540-8167.2008.01339.x. PMID: 19017345

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