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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.
Autosomal dominant inheritance (Orphanet)
 
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

Diagnosis and management of short QT syndrome.
Bjerregaard P
Heart Rhythm 2018 Aug;15(8):1261-1267. Epub 2018 Mar 2 doi: 10.1016/j.hrthm.2018.02.034. PMID: 29501667
Short QT syndrome: mechanisms, diagnosis and treatment.
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378
Short QT syndrome. Genotype-phenotype correlations.
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

Pharmacology of Cenobamate: Mechanism of Action, Pharmacokinetics, Drug-Drug Interactions and Tolerability.
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
Inherited cardiac arrhythmias.
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
Short QT syndrome in pediatrics.
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
The measurement of the QT interval.
Postema PG, Wilde AA
Curr Cardiol Rev 2014 Aug;10(3):287-94. doi: 10.2174/1573403x10666140514103612. PMID: 24827793Free PMC Article
Quinidine revisited.
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

Diagnosis

Latent Causes of Sudden Cardiac Arrest.
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
Inherited cardiac arrhythmias.
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
Short QT syndrome in pediatrics.
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
Short QT syndrome.
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
Short QT syndrome.
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

Therapy

Pharmacology of Cenobamate: Mechanism of Action, Pharmacokinetics, Drug-Drug Interactions and Tolerability.
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
Quinidine revisited.
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
Short QT syndrome.
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
Short QT syndrome.
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
Short QT syndrome.
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

Cardiac K(+) Channels and Channelopathies.
Schreiber JA, Seebohm G
Handb Exp Pharmacol 2021;267:113-138. doi: 10.1007/164_2021_513. PMID: 34247279
Inherited Cardiac Arrhythmias and Channelopathies.
Kline J, Costantini O
Med Clin North Am 2019 Sep;103(5):809-820. doi: 10.1016/j.mcna.2019.05.001. PMID: 31378327
Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome.
El-Battrawy I, Besler J, Ansari U, Liebe V, Schimpf R, Tülümen E, Rudic B, Lang S, Odening K, Cyganek L, Wolpert C, Zhou X, Borggrefe M, Akin I
Clin Res Cardiol 2019 Oct;108(10):1140-1146. Epub 2019 Mar 16 doi: 10.1007/s00392-019-01449-3. PMID: 30879093
Channelopathies, genetic testing and risk stratification.
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
Short QT syndrome: mechanisms, diagnosis and treatment.
Bjerregaard P, Gussak I
Nat Clin Pract Cardiovasc Med 2005 Feb;2(2):84-7. doi: 10.1038/ncpcardio0097. PMID: 16265378

Clinical prediction guides

Pharmacology of Cenobamate: Mechanism of Action, Pharmacokinetics, Drug-Drug Interactions and Tolerability.
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
QT Assessment in Early Drug Development: The Long and the Short of It.
Lester RM, Paglialunga S, Johnson IA
Int J Mol Sci 2019 Mar 15;20(6) doi: 10.3390/ijms20061324. PMID: 30884748Free PMC Article
Diagnosis and management of short QT syndrome.
Bjerregaard P
Heart Rhythm 2018 Aug;15(8):1261-1267. Epub 2018 Mar 2 doi: 10.1016/j.hrthm.2018.02.034. PMID: 29501667
Channelopathies, genetic testing and risk stratification.
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
Inherited ion channel diseases: a brief review.
Lieve KV, Wilde AA
Europace 2015 Oct;17 Suppl 2:ii1-6. doi: 10.1093/europace/euv105. PMID: 26842110

Recent systematic reviews

Implantable cardioverter-defibrillator in patients with inherited arrhythmia syndromes: A systematic review.
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
Sex-differences in short QT syndrome: A systematic literature review and pooled analysis.
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
Implantable cardioverter-defibrillator harm in young patients with inherited arrhythmia syndromes: A systematic review and meta-analysis of inappropriate shocks and complications.
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
Implantable defibrillators versus medical therapy for cardiac channelopathies.
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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