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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

Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death.
Specterman MJ, Behr ER
Heart 2023 Feb 23;109(6):434-441. doi: 10.1136/heartjnl-2021-320015. PMID: 36167638
Management of ventricular electrical storm: a contemporary appraisal.
Kowlgi GN, Cha YM
Europace 2020 Dec 23;22(12):1768-1780. doi: 10.1093/europace/euaa232. PMID: 32984880
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

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
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
HERG1 channelopathies.
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
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

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
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.
Walsh R, Adler A, Amin AS, Abiusi E, Care M, Bikker H, Amenta S, Feilotter H, Nannenberg EA, Mazzarotto F, Trevisan V, Garcia J, Hershberger RE, Perez MV, Sturm AC, Ware JS, Zareba W, Novelli V, Wilde AAM, Gollob MH
Eur Heart J 2022 Apr 14;43(15):1500-1510. doi: 10.1093/eurheartj/ehab687. PMID: 34557911Free PMC Article
Management of ventricular electrical storm: a contemporary appraisal.
Kowlgi GN, Cha YM
Europace 2020 Dec 23;22(12):1768-1780. doi: 10.1093/europace/euaa232. PMID: 32984880
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.
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
Management of ventricular electrical storm: a contemporary appraisal.
Kowlgi GN, Cha YM
Europace 2020 Dec 23;22(12):1768-1780. doi: 10.1093/europace/euaa232. PMID: 32984880
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

Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death.
Specterman MJ, Behr ER
Heart 2023 Feb 23;109(6):434-441. doi: 10.1136/heartjnl-2021-320015. PMID: 36167638
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
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
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy.
Pérez Riera AR, Paixão-Almeida A, Barbosa-Barros R, Yanowitz FG, Baranchuk A, Dubner S, Palandri Chagas AC
Cardiol J 2013;20(5):464-71. Epub 2013 May 15 doi: 10.5603/CJ.a2013.0052. PMID: 23677719
Inherited arrhythmia syndromes.
Wilde AA, Tan HL
Circ J 2007;71 Suppl A:A12-9. doi: 10.1253/circj.71.a12. PMID: 17587734

Clinical prediction guides

Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death.
Specterman MJ, Behr ER
Heart 2023 Feb 23;109(6):434-441. doi: 10.1136/heartjnl-2021-320015. PMID: 36167638
Implantable defibrillators in primary prevention of genetic arrhythmias. A shocking choice?
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
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

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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