Current issue
Archive
About the Journal
About us
Aims and Scope
Indexing and Abstracting
Editorial Office
Open Access Policy
Publication Ethics
Contact
For Authors
Editorial Policy
Peer Review Policy
Manuscript Preparation Guidelines
Copyright & Licensing
Publication Fees
Fast-Track Paper Publication Option
Conflict Interest Guidance
Submit an Article
Special Issues
News & Editorials
“Fake,” “Predatory,” and “Pseudo” Journals: Charlatans Threatening Trust in Science
Shifting the Journal submission-review system to the Editorial System Manuscript December 27, 2017.
REVIEW ARTICLE
Rare but lethal short QT syndrome: most recent understanding of the disease
1
Department of Medicine, UT Health San Antonio, San Antonio, Texas, United States
2
Department of Cardiovascular Diseases, Division of Echocardiography, Mayo Clinic, Rochester, Minnesota, United States
Online publication date: 2019-09-11
Publication date: 2019-09-11
Electron J Gen Med 2019;16(5):em154
KEYWORDS
TOPICS
ABSTRACT
Short QT syndrome (SQTS) is a rare genetic channelopathy that affects the repolarization of cardiac cells and is associated with cardiac arrhythmia and sudden cardiac death (SCD). “Abbreviated repolarization” is the hallmark of the disease, which is secondary to genetic defects; mutations in several genes that encode different cardiac ion channels have been identified in individuals with the disease. Presentations of the disease include syncope, atrial or ventricular arrhythmia and SCD. SQTS is diagnosed with a corrected-QT (QTc) interval of <340 milliseconds (ms) or a QTc of 340-360 ms and either personal or family history of SCD, family history of SQTS or an identified genetic mutation. Implantable cardioverter-defibrillator (ICD) is the main treatment used in the secondary prevention of SCD in patients with the disease who have experienced previous major arrhythmic events. Pharmacological treatment with quinidine is used as an adjuvant therapy to ICD in the setting of recurrent shocks or as an alternative treatment when ICD is not feasible. The goal of this review article is to describe this rare and under-studied condition, highlight steps to diagnosis and describe treatment modalities, particularly in South America where there is a lack of studies and understanding of this disease.
REFERENCES (50)
1.
Al-Khatib SM, Stevenson WG, Ackerman MJ, et al. 2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. J Am Coll Cardiol. 2018;72(14):1677-749. https://doi.org/10.1016/j.jacc... PMid:29097294.
2.
Algra A, Tijssen JG, Roelandt JR, Pool J, Lubsen J. QT interval variables from 24 hour electrocardiography and the two year risk of sudden death. Heart. 1993;70(1):43–8. https://doi.org/10.1136/hrt.70....
3.
Gussak I, Brugada P, Brugada J, et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology. 2000;94(2):99–102. https://doi.org/10.1159/000047... PMid:11173780.
4.
Mason JW, Ramseth DJ, Chanter DO, Moon TE, Goodman DB, Mendzelevski B. Electrocardiographic reference ranges derived from 79,743 ambulatory subjects. J Electrocardiol. 2007;40(3):228-34.e8. https://doi.org/10.1016/j.jele... PMid:17276451.
5.
Palhares DMF, Marcolino MS, Santos TMM, et al. Normal limits of the electrocardiogram derived from a large database of Brazilian primary care patients. BMC Cardiovasc Disord. 2017;17(1):152. https://doi.org/10.1186/s12872... PMid:28610624 PMCid:PMC5470250.
6.
Miyamoto A, Hayashi H, Yoshino T, et al. Clinical and electrocardiographic characteristics of patients with short QT interval in a large hospital-based population. Heart Rhythm. 2012;9(1):66–74. https://doi.org/10.1016/j.hrth... PMid:21855519.
7.
Kobza R, Roos M, Niggli B, et al. Prevalence of long and short QT in a young population of 41,767 predominantly male Swiss conscripts. Heart Rhythm. 2009;6(5):652–7. https://doi.org/10.1016/j.hrth... PMid:19303371.
8.
Rudy Y. Molecular basis of cardiac action potential repolarization. Ann N Y Acad Sci. 2008;1123(1):113–8. https://doi.org/10.1196/annals... PMid:18375583.
9.
Brugada R, Hong K, Cordeiro JM, Dumaine R. Short QT syndrome. CMAJ Can Med Assoc J. 2005;173(11):1349–54. https://doi.org/10.1503/cmaj.0... PMid:16301704 PMCid:PMC1283503.
10.
Priori SG, Pandit SV, Rivolta I, et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res. 2005;96(7):800–7. https://doi.org/10.1161/01.RES... PMid:15761194.
11.
Brugada R, Hong K, Dumaine R, et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation. 2004;109(1):30–5. https://doi.org/10.1161/01.CIR... PMid:14676148.
12.
Sun Y, Quan X-Q, Fromme S, et al. A novel mutation in the KCNH2 gene associated with short QT syndrome. J Mol Cell Cardiol. 2011;50(3):433–41. https://doi.org/10.1016/j.yjmc... PMid:21130771.
13.
Redpath CJ, Green MS, Birnie DH, Gollob MH. Rapid genetic testing facilitating the diagnosis of short QT syndrome. Can J Cardiol. 2009;25(4):e133–5. https://doi.org/10.1016/S0828-....
14.
Harrell DT, Ashihara T, Ishikawa T, et al. Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. Int J Cardiol. 2015;190:393–402. https://doi.org/10.1016/j.ijca... PMid:25974115.
15.
Itoh H, Sakaguchi T, Ashihara T, et al. A novel KCNH2 mutation as a modifier for short QT interval. Int J Cardiol. 2009;137(1):83–5. https://doi.org/10.1016/j.ijca... PMid:18692916.
16.
Akdis D, Saguner AM, Medeiros-Domingo A, et al. Multiple clinical profiles of families with the short QT syndrome. EP Eur. 2018;20(FI1):f113–21. https://doi.org/10.1093/europa... PMid:29016797.
17.
Bellocq C, van Ginneken ACG, Bezzina CR, et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation. 2004;109(20):2394–7. https://doi.org/10.1161/01.CIR... PMid:15159330.
18.
Hong K, Piper D, Diazvaldecantos A, et al. De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero. Cardiovasc Res. 2005;68(3):433–40. https://doi.org/10.1016/j.card... PMid:16109388.
19.
Rhodes TE, Abraham RL, Welch RC, et al. Cardiac potassium channel dysfunction in sudden infant death syndrome. J Mol Cell Cardiol. 2008;44(3):571–81. https://doi.org/10.1016/j.yjmc... PMid:18222468 PMCid:PMC2386856.
20.
Moreno C, Oliveras A, de la Cruz A, et al. A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. Cardiovasc Res. 2015;107(4):613–23. https://doi.org/10.1093/cvr/cv... PMid:26168993.
21.
Mazzanti A, Kanthan A, Monteforte N, et al. Novel insight into the natural history of short QT syndrome. J Am Coll Cardiol. 2014;63(13):1300–8. https://doi.org/10.1016/j.jacc... PMid:24291113 PMCid:PMC3988978.
22.
Rothenberg I, Piccini I, Wrobel E, et al. Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). Hear Case Rep. 2016;2(6):521–9. https://doi.org/10.1016/j.hrcr... PMid:28491751 PMCid:PMC5420010.
23.
Hattori T, Makiyama T, Akao M, et al. A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents. Cardiovasc Res. 2012;93(4):666–73. https://doi.org/10.1093/cvr/cv... PMid:22155372.
24.
Deo M, Ruan Y, Pandit SV, et al. KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. Proc Natl Acad Sci. 2013;110(11):4291–6. https://doi.org/10.1073/pnas.1... PMid:23440193 PMCid:PMC3600465.
25.
Ambrosini E, Sicca F, Brignone MS, et al. Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype. Hum Mol Genet. 2014;23(18):4875–86. https://doi.org/10.1093/hmg/dd... PMid:24794859 PMCid:PMC4140467.
26.
Antzelevitch C, Pollevick GD, Cordeiro JM, et al. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007;115(4):442–9. https://doi.org/10.1161/CIRCUL... PMid:17224476 PMCid:PMC1952683.
27.
Templin C, Ghadri J-R, Rougier J-S, et al. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J. 2011;32(9):1077–88. https://doi.org/10.1093/eurhea... PMid:21383000 PMCid:PMC3086900.
28.
Hong K, Hu J, Yu J, Brugada R. Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation. Eur J Hum Genet. 2012;20(11):1189–92. https://doi.org/10.1038/ejhg.2... PMid:22490985 PMCid:PMC3476719.
29.
Thorsen K, Dam VS, Kjaer-Sorensen K, et al. Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. Nat Commun. 2017;8(1):1696. https://doi.org/10.1038/s41467... PMid:29167417 PMCid:PMC5700076.
30.
Roussel J, Labarthe F, Thireau J, et al. Carnitine deficiency induces a short QT syndrome. Heart Rhythm. 2016;13(1):165–74. https://doi.org/10.1016/j.hrth... PMid:26190315.
31.
Bjerregaard P. Diagnosis and management of short QT syndrome. Heart Rhythm. 2018;15(8):1261–7. https://doi.org/10.1016/j.hrth... PMid:29501667.
32.
Ferro F, Ouillé A, Tran T-A, et al. Long-chain acylcarnitines regulate the hERG channel. PLoS ONE. 2012;7(7):e41686. https://doi.org/10.1371/journa... PMid:22848566 PMCid:PMC3404973.
33.
Priori SG, Wilde AA, Horie M, et al. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm. 2013;10(12):1932–63. https://doi.org/10.1016/j.hrth... PMid:24011539.
34.
Giustetto C, Schimpf R, Mazzanti A, et al. Long-term follow-up of patients with short QT syndrome. J Am Coll Cardiol. 2011;58(6):587–95. https://doi.org/10.1016/j.jacc... PMid:21798421.
35.
Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The task force for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death of the European Society of Cardiology (ESC) endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J. 2015;36(41):2793–867. https://doi.org/10.1093/eurhea... PMid:26320108.
36.
Giustetto C, Scrocco C, Schimpf R, et al. Usefulness of exercise test in the diagnosis of short QT syndrome. Europace. 2015;17(4):628–34. https://doi.org/10.1093/europa... PMid:25833882.
37.
Patel C, Yan G-X, Antzelevitch C. Short QT syndrome: from bench to bedside. Circ Arrhythm Electrophysiol. 2010;3(4):401–8. https://doi.org/10.1161/CIRCEP... PMid:20716721 PMCid:PMC2933105.
38.
Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome. J Am Coll Cardiol. 2011;57(7):802–12. https://doi.org/10.1016/j.jacc... PMid:21310316.
39.
Villafañe J, Atallah J, Gollob MH, et al. Long-term follow-up of a pediatric cohort with short QT syndrome. J Am Coll Cardiol. 2013;61(11):1183–91. https://doi.org/10.1016/j.jacc... PMid:23375927.
40.
Pereira R, Campuzano O, Sarquella-Brugada G, et al. Short QT syndrome in pediatrics. Clin Res Cardiol. 2017;106(6):393–400. https://doi.org/10.1007/s00392... PMid:28303324.
41.
Giustetto C, Di Monte F, Wolpert C, et al. Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J. 2006;27(20):2440–7. https://doi.org/10.1093/eurhea... PMid:16926178.
42.
Anttonen O, Junttila J, Giustetto C, et al. T-wave morphology in short QT syndrome. Ann Noninvasive Electrocardiol. 2009;14(3):262–7. https://doi.org/10.1111/j.1542... PMid:19614638.
43.
Schimpf R, Wolpert C, Bianchi F, et al. Congenital short QT syndrome and implantable cardioverter defibrillator treatment: inherent risk for inappropriate shock delivery. J Cardiovasc Electrophysiol. 2003;14(12):1273–7. https://doi.org/10.1046/j.1540... PMid:14678099.
44.
Bjerregaard P, Gussak I. Short QT syndrome: mechanisms, diagnosis and treatment. Nat Clin Pract Cardiovasc Med. 2005;2(2):84–7. https://doi.org/10.1038/ncpcar... PMid:16265378.
45.
Gaita F, Giustetto C, Bianchi F, et al. Short QT syndrome: a familial cause of sudden death. Circulation. 2003;108(8):965–70. https://doi.org/10.1161/01.CIR... PMid:12925462.
46.
Mazzanti A, Maragna R, Vacanti G, et al. Hydroquinidine prevents life-threatening arrhythmic events in patients with short QT syndrome. J Am Coll Cardiol. 2017;70(24):3010–5. https://doi.org/10.1016/j.jacc... PMid:29241489.
47.
Hong K, Bjerregaard P, Gussak I, Brugada R. Short QT syndrome and atrial fibrillation caused by mutation in KCNH2. J Cardiovasc Electrophysiol. 2005;16(4):394–6. https://doi.org/10.1046/j.1540... PMid:15828882.
48.
Lu LX, Zhou W, Zhang X, Cao Q, Yu K, Zhu C. Short QT syndrome: A case report and review of literature. Resuscitation. 2006;71(1):115–21. https://doi.org/10.1016/j.resu... PMid:16942825.
49.
Giustetto C, Scrocco C, Giachino D, Rapezzi C, Mognetti B, Gaita F. The lack of effect of sotalol in short QT syndrome patients carrying the T618I mutation in the KCNH2 gene. Hear Case Rep. 2015;1(5):373–8. https://doi.org/10.1016/j.hrcr... PMid:28491588 PMCid:PMC5419677.
50.
Hancox JC, Whittaker DG, Du C, Stuart AG, Zhang H. Emerging therapeutic targets in the short QT syndrome. Expert Opin Ther Targets. 2018;22(5):439–51. https://doi.org/10.1080/147282... PMid:29697308.
| eISSN: | 2516-3507 |
We process personal data collected when visiting the website. The function of obtaining information about users and their behavior is carried out by voluntarily entered information in forms and saving cookies in end devices. Data, including cookies, are used to provide services, improve the user experience and to analyze the traffic in accordance with the Privacy policy. Data are also collected and processed by Google Analytics tool (more).
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
You can change cookies settings in your browser. Restricted use of cookies in the browser configuration may affect some functionalities of the website.
