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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
Management of ventricular arrhythmias in suspected channelopathies.
Obeyesekere MN, Antzelevitch C, Krahn AD
Circ Arrhythm Electrophysiol 2015 Feb;8(1):221-31. doi: 10.1161/CIRCEP.114.002321. PMID: 25691556
Proposed diagnostic criteria for short QT syndrome are badly founded.
Bjerregaard P
J Am Coll Cardiol 2011 Jul 26;58(5):549-50; author reply 550-1. doi: 10.1016/j.jacc.2011.03.037. PMID: 21777756

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
Atrial Fibrillation in Inherited Channelopathies.
Al-Azaam B, Darbar D
Card Electrophysiol Clin 2021 Mar;13(1):155-163. Epub 2021 Jan 8 doi: 10.1016/j.ccep.2020.10.004. PMID: 33516393Free PMC Article
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
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
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

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 Arrhythmia Syndromes.
Kim JA, Chelu MG
Tex Heart Inst J 2021 Sep 1;48(4) doi: 10.14503/THIJ-20-7482. PMID: 34669951Free PMC Article
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 short QT syndrome.
Cross B, Homoud M, Link M, Foote C, Garlitski AC, Weinstock J, Estes NA 3rd
J Interv Card Electrophysiol 2011 Jun;31(1):25-31. Epub 2011 Apr 14 doi: 10.1007/s10840-011-9566-0. PMID: 21491125
Short QT syndrome review.
Van Houzen NE, Alsheikh-Ali AA, Garlitski AC, Homoud MK, Weinstock J, Link MS, Estes NA 3rd
J Interv Card Electrophysiol 2008 Oct;23(1):1-5. Epub 2008 Feb 26 doi: 10.1007/s10840-008-9201-x. PMID: 18299973

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
Recent developments in the science of proarrhythmic cardiac safety of new drugs.
Turner JR, Karnad DR, Cabell CH, Kothari S
Eur Heart J Cardiovasc Pharmacother 2017 Apr 1;3(2):118-124. doi: 10.1093/ehjcvp/pvw045. PMID: 28363206
Short QT syndrome: a predictable story.
Brugada J, Gussak I, Brugada P
Cardiology 2014;128(3):231-3. Epub 2014 May 6 doi: 10.1159/000359995. PMID: 24818800
The short QT syndrome.
Cross B, Homoud M, Link M, Foote C, Garlitski AC, Weinstock J, Estes NA 3rd
J Interv Card Electrophysiol 2011 Jun;31(1):25-31. Epub 2011 Apr 14 doi: 10.1007/s10840-011-9566-0. PMID: 21491125
Short QT syndrome review.
Van Houzen NE, Alsheikh-Ali AA, Garlitski AC, Homoud MK, Weinstock J, Link MS, Estes NA 3rd
J Interv Card Electrophysiol 2008 Oct;23(1):1-5. Epub 2008 Feb 26 doi: 10.1007/s10840-008-9201-x. PMID: 18299973

Prognosis

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
Short QT syndrome: a predictable story.
Brugada J, Gussak I, Brugada P
Cardiology 2014;128(3):231-3. Epub 2014 May 6 doi: 10.1159/000359995. PMID: 24818800
Polymorphic ventricular tachycardia--part II: the channelopathies.
Choudhuri I, Pinninti M, Marwali MR, Sra J, Akhtar M
Curr Probl Cardiol 2013 Dec;38(12):503-48. doi: 10.1016/j.cpcardiol.2013.07.004. PMID: 24262155
Arrhythmias: a ‘Schwartz score’ for short QT syndrome.
Veltmann C, Borggrefe M
Nat Rev Cardiol 2011 May;8(5):251-2. doi: 10.1038/nrcardio.2011.51. PMID: 21448139
Short QT syndrome: from bench to bedside.
Patel C, Yan GX, Antzelevitch C
Circ Arrhythm Electrophysiol 2010 Aug;3(4):401-8. doi: 10.1161/CIRCEP.109.921056. PMID: 20716721Free PMC Article

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
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: a predictable story.
Brugada J, Gussak I, Brugada P
Cardiology 2014;128(3):231-3. Epub 2014 May 6 doi: 10.1159/000359995. PMID: 24818800
Arrhythmias: a ‘Schwartz score’ for short QT syndrome.
Veltmann C, Borggrefe M
Nat Rev Cardiol 2011 May;8(5):251-2. doi: 10.1038/nrcardio.2011.51. PMID: 21448139
Short QT syndrome: from bench to bedside.
Patel C, Yan GX, Antzelevitch C
Circ Arrhythm Electrophysiol 2010 Aug;3(4):401-8. doi: 10.1161/CIRCEP.109.921056. PMID: 20716721Free PMC Article

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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