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Short QT syndrome

MedGen UID:
378835
Concept ID:
C2348199
Disease or Syndrome
Synonym: Familial short QT syndrome
SNOMED CT: Short QT syndrome (698272007); Familial short QT syndrome (698272007); Genetic short QT syndrome (698272007)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: 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.
 
Related genes: KCNQ1, KCNJ2, KCNH2
 
Monarch Initiative: MONDO:0000453
OMIM® Phenotypic series: PS609620
Orphanet: ORPHA51083

Definition

A rare, genetic cardiac rhythm disease characterized by a short QTc interval on the surface electrocardiogram (ECG) with a high risk of syncope or sudden death due to malignant ventricular arrhythmia. [from ORDO]

Professional guidelines

PubMed

Suzuki H, Horie M, Ozawa J, Sumitomo N, Ohno S, Hoshino K, Ehara E, Takahashi K, Maeda Y, Yoshinaga M, Tateno S, Takagi J, Doi S, Hoshina S, Sato I, Ishikawa T, Makita N, Chinushi M, Akazawa K, Nagashima M
Europace 2021 Dec 7;23(12):2029-2038. doi: 10.1093/europace/euab097. PMID: 34179980
Bjerregaard P
Heart Rhythm 2018 Aug;15(8):1261-1267. Epub 2018 Mar 2 doi: 10.1016/j.hrthm.2018.02.034. PMID: 29501667
Borggrefe M, Wolpert C, Antzelevitch C, Veltmann C, Giustetto C, Gaita F, Schimpf R
J Electrocardiol 2005 Oct;38(4 Suppl):75-80. doi: 10.1016/j.jelectrocard.2005.06.009. PMID: 16226079Free PMC Article

Recent clinical studies

Etiology

Roberti R, De Caro C, Iannone LF, Zaccara G, Lattanzi S, Russo E
CNS Drugs 2021 Jun;35(6):609-618. Epub 2021 May 16 doi: 10.1007/s40263-021-00819-8. PMID: 33993416
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article
Pereira R, Campuzano O, Sarquella-Brugada G, Cesar S, Iglesias A, Brugada J, Cruz Filho FES, Brugada R
Clin Res Cardiol 2017 Jun;106(6):393-400. Epub 2017 Mar 16 doi: 10.1007/s00392-017-1094-1. PMID: 28303324
Postema PG, Wilde AA
Curr Cardiol Rev 2014 Aug;10(3):287-94. doi: 10.2174/1573403x10666140514103612. PMID: 24827793Free 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

Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Kim JA, Chelu MG
Tex Heart Inst J 2021 Sep 1;48(4) doi: 10.14503/THIJ-20-7482. PMID: 34669951Free PMC Article
Schwartz PJ, Ackerman MJ, Antzelevitch C, Bezzina CR, Borggrefe M, Cuneo BF, Wilde AAM
Nat Rev Dis Primers 2020 Jul 16;6(1):58. doi: 10.1038/s41572-020-0188-7. PMID: 32678103Free PMC Article
Bjerregaard P
Heart Rhythm 2018 Aug;15(8):1261-1267. Epub 2018 Mar 2 doi: 10.1016/j.hrthm.2018.02.034. PMID: 29501667
Pereira R, Campuzano O, Sarquella-Brugada G, Cesar S, Iglesias A, Brugada J, Cruz Filho FES, Brugada R
Clin Res Cardiol 2017 Jun;106(6):393-400. Epub 2017 Mar 16 doi: 10.1007/s00392-017-1094-1. PMID: 28303324

Therapy

Roberti R, De Caro C, Iannone LF, Zaccara G, Lattanzi S, Russo E
CNS Drugs 2021 Jun;35(6):609-618. Epub 2021 May 16 doi: 10.1007/s40263-021-00819-8. PMID: 33993416
Yang F, Hanon S, Lam P, Schweitzer P
Am J Med 2009 Apr;122(4):317-21. Epub 2009 Feb 25 doi: 10.1016/j.amjmed.2008.11.019. PMID: 19249010
Brugada R, Hong K, Cordeiro JM, Dumaine R
CMAJ 2005 Nov 22;173(11):1349-54. doi: 10.1503/cmaj.050596. PMID: 16301704Free PMC Article
Bjerregaard P, Gussak I
Ann Noninvasive Electrocardiol 2005 Oct;10(4):436-40. doi: 10.1111/j.1542-474X.2005.00064.x. PMID: 16255754Free PMC Article
Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M
Cardiovasc Res 2005 Aug 15;67(3):357-66. doi: 10.1016/j.cardiores.2005.03.026. PMID: 15890322

Prognosis

Schreiber JA, Seebohm G
Handb Exp Pharmacol 2021;267:113-138. doi: 10.1007/164_2021_513. PMID: 34247279
Crotti L, Odening KE, Sanguinetti MC
Cardiovasc Res 2020 Jul 15;116(9):1542-1556. doi: 10.1093/cvr/cvaa068. PMID: 32227190
Kline J, Costantini O
Med Clin North Am 2019 Sep;103(5):809-820. doi: 10.1016/j.mcna.2019.05.001. PMID: 31378327
Wilde AAM, Amin A
Int J Cardiol 2017 Jun 15;237:53-55. Epub 2017 Mar 18 doi: 10.1016/j.ijcard.2017.03.063. PMID: 28343764
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378

Clinical prediction guides

Corrado D, Link MS, Schwartz PJ
Eur Heart J 2022 Aug 21;43(32):3029-3040. doi: 10.1093/eurheartj/ehac298. PMID: 35725934Free PMC Article
Roberti R, De Caro C, Iannone LF, Zaccara G, Lattanzi S, Russo E
CNS Drugs 2021 Jun;35(6):609-618. Epub 2021 May 16 doi: 10.1007/s40263-021-00819-8. PMID: 33993416
Bjerregaard P
Heart Rhythm 2018 Aug;15(8):1261-1267. Epub 2018 Mar 2 doi: 10.1016/j.hrthm.2018.02.034. PMID: 29501667
Akdis D, Saguner AM, Medeiros-Domingo A, Schaller A, Balmer C, Steffel J, Brunckhorst C, Duru F
Europace 2018 Jun 1;20(FI1):f113-f121. doi: 10.1093/europace/eux186. PMID: 29016797
Wilde AAM, Amin A
Int J Cardiol 2017 Jun 15;237:53-55. Epub 2017 Mar 18 doi: 10.1016/j.ijcard.2017.03.063. PMID: 28343764

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
El-Battrawy I, Schlentrich K, Besler J, Liebe V, Schimpf R, Lang S, Odening KE, Wolpert C, Zhou X, Borggrefe M, Akin I
Eur J Prev Cardiol 2020 Aug;27(12):1335-1338. Epub 2019 May 24 doi: 10.1177/2047487319850953. PMID: 31122038Free PMC Article
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
McNamara DA, Goldberger JJ, Berendsen MA, Huffman MD
Cochrane Database Syst Rev 2015 Oct 7;2015(10):CD011168. doi: 10.1002/14651858.CD011168.pub2. PMID: 26445202Free PMC Article

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