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Short QT syndrome type 2(SQT2)

MedGen UID:
355890
Concept ID:
C1865019
Disease or Syndrome
Synonym: Short QT Syndrome 2
 
Gene (location): KCNQ1 (11p15.5-15.4)
 
Monarch Initiative: MONDO:0012313
OMIM®: 609621

Definition

Short QT syndrome is a cardiac channelopathy associated with a predisposition to atrial fibrillation and sudden cardiac death. Patients have a structurally normal heart, but electrocardiography (ECG) exhibits abbreviated QTc (Bazett's corrected QT) intervals of less than 360 ms (summary by Moreno et al., 2015). For a discussion of genetic heterogeneity of short QT syndrome, see SQT1 (609620). [from OMIM]

Additional description

From MedlinePlus Genetics
Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.

If untreated, the arrhythmia associated with short QT syndrome can lead to a variety of signs and symptoms, from dizziness and fainting (syncope) to cardiac arrest and sudden death. These signs and symptoms can occur any time from early infancy to old age. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. However, some people with short QT syndrome never experience any health problems associated with the condition.  https://medlineplus.gov/genetics/condition/short-qt-syndrome

Clinical features

From HPO
Sudden cardiac death
MedGen UID:
38841
Concept ID:
C0085298
Pathologic Function
The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset).
Atrial fibrillation
MedGen UID:
445
Concept ID:
C0004238
Finding
An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute.
Syncope
MedGen UID:
21443
Concept ID:
C0039070
Sign or Symptom
Syncope is a syndrome in which loss of consciousness is of relatively sudden onset, temporary (usually less than 1 to 2 minutes), self-terminating, and of usually rapid recovery. Syncope leads to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow.
Ventricular fibrillation
MedGen UID:
21844
Concept ID:
C0042510
Disease or Syndrome
Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations.
Shortened QT interval
MedGen UID:
489827
Concept ID:
C0151879
Finding
Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG).
Bradycardia
MedGen UID:
140901
Concept ID:
C0428977
Finding
A slower than normal heart rate (in adults, slower than 60 beats per minute).

Recent clinical studies

Etiology

Jæger KH, Wall S, Tveito A
PLoS Comput Biol 2021 Feb;17(2):e1008089. Epub 2021 Feb 16 doi: 10.1371/journal.pcbi.1008089. PMID: 33591962Free PMC Article
Policarová M, Novotný T, Bébarová M
Can J Cardiol 2019 Apr;35(4):511-522. Epub 2018 Nov 24 doi: 10.1016/j.cjca.2018.11.012. PMID: 30935642
Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH, Healey J, Harrell DT, Makita N, Abe H, Sun Y, Guo J, Zhang L, Yan G, Mah D, Walsh EP, Leopold HB, Giustetto C, Gaita F, Zienciuk-Krajka A, Mazzanti A, Priori SG, Antzelevitch C, Barajas-Martinez H
JACC Clin Electrophysiol 2017 Jul;3(7):727-743. Epub 2017 Feb 1 doi: 10.1016/j.jacep.2016.11.013. PMID: 29759541
Shimizu W, Horie M
Circ Res 2011 Jun 24;109(1):97-109. doi: 10.1161/CIRCRESAHA.110.224600. PMID: 21700951
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

Blancard M, Debbiche A, Kato K, Cardin C, Sabrina G, Gandjbakhch E, Probst V, Haissaguerre M, Extramiana F, Hocini M, Olivier G, Leenhardt A, Guicheney P, Rougier JS
Sci Rep 2018 Oct 2;8(1):14619. doi: 10.1038/s41598-018-32867-4. PMID: 30279520Free PMC Article
Hu D, Li Y, Zhang J, Pfeiffer R, Gollob MH, Healey J, Harrell DT, Makita N, Abe H, Sun Y, Guo J, Zhang L, Yan G, Mah D, Walsh EP, Leopold HB, Giustetto C, Gaita F, Zienciuk-Krajka A, Mazzanti A, Priori SG, Antzelevitch C, Barajas-Martinez H
JACC Clin Electrophysiol 2017 Jul;3(7):727-743. Epub 2017 Feb 1 doi: 10.1016/j.jacep.2016.11.013. PMID: 29759541
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
Fukuyama M, Ohno S, Wang Q, Kimura H, Makiyama T, Itoh H, Ito M, Horie M
Circ J 2013;77(7):1799-806. Epub 2013 Apr 11 doi: 10.1253/circj.cj-12-1457. PMID: 23575362
Steffensen TS, Barness EG
Front Biosci (Elite Ed) 2009 Jun 1;1(2):519-27. doi: 10.2741/E48. PMID: 19482666

Therapy

Fukuyama M, Ohno S, Wang Q, Kimura H, Makiyama T, Itoh H, Ito M, Horie M
Circ J 2013;77(7):1799-806. Epub 2013 Apr 11 doi: 10.1253/circj.cj-12-1457. PMID: 23575362
Dai DZ, Dai Y
Curr Opin Investig Drugs 2008 Sep;9(9):1001-8. PMID: 18729007

Prognosis

Moreno-Manuel AI, Macías Á, Cruz FM, Gutiérrez LK, Martínez F, González-Guerra A, Martínez Carrascoso I, Bermúdez-Jimenez FJ, Sánchez-Pérez P, Vera-Pedrosa ML, Ruiz-Robles JM, Bernal JA, Jalife J
Cardiovasc Res 2024 Apr 30;120(5):490-505. doi: 10.1093/cvr/cvae019. PMID: 38261726Free PMC Article
Jæger KH, Wall S, Tveito A
PLoS Comput Biol 2021 Feb;17(2):e1008089. Epub 2021 Feb 16 doi: 10.1371/journal.pcbi.1008089. PMID: 33591962Free PMC Article
Endres D, Decher N, Röhr I, Vowinkel K, Domschke K, Komlosi K, Tzschach A, Gläser B, Schiele MA, Runge K, Süß P, Schuchardt F, Nickel K, Stallmeyer B, Rinné S, Schulze-Bahr E, Tebartz van Elst L
Int J Mol Sci 2020 Nov 15;21(22) doi: 10.3390/ijms21228611. PMID: 33203140Free PMC Article
Ren S, Pang C, Huang Y, Xing C, Zhan Y, An H
J Membr Biol 2017 Oct;250(5):425-432. Epub 2017 Jun 28 doi: 10.1007/s00232-017-9964-z. PMID: 28660286
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

Clinical prediction guides

Moreno-Manuel AI, Macías Á, Cruz FM, Gutiérrez LK, Martínez F, González-Guerra A, Martínez Carrascoso I, Bermúdez-Jimenez FJ, Sánchez-Pérez P, Vera-Pedrosa ML, Ruiz-Robles JM, Bernal JA, Jalife J
Cardiovasc Res 2024 Apr 30;120(5):490-505. doi: 10.1093/cvr/cvae019. PMID: 38261726Free PMC Article
Du C, Zhang H, Harmer SC, Hancox JC
Biochem Biophys Res Commun 2022 Mar 12;596:49-55. Epub 2022 Jan 21 doi: 10.1016/j.bbrc.2022.01.057. PMID: 35114584Free PMC Article
Jæger KH, Wall S, Tveito A
PLoS Comput Biol 2021 Feb;17(2):e1008089. Epub 2021 Feb 16 doi: 10.1371/journal.pcbi.1008089. PMID: 33591962Free PMC Article
Liu W, Deng J, Wang G, Zhang C, Luo X, Yan D, Su Q, Liu J
J Mol Cell Cardiol 2014 Jul;72:208-18. Epub 2014 Mar 26 doi: 10.1016/j.yjmcc.2014.03.013. PMID: 24681347
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

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