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Professional paper - Review paper
Sindrom dugog QT intervala — uzrok iznenadne smrti
Cardiologia Croatica, 7 (2012), 11/12; 263-275. urn:nbn:hr:184:684408
Dembić, Maja; Brusich, Sandro; Louise Hedley, Paula; De Villiers, Carin Pamela; Čubranić, Zlatko; Kanters, Jorgen Kim; Zaputović, Luka; Christiansen, Michael

Institutional repository: Repository of the University of Rijeka, Faculty of Medicine

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Dembić, M., Brusich, S., Louise Hedley, P., De Villiers, C. P., Čubranić, Z., Kanters, J. K. ... Christiansen, M. (2012). Sindrom dugog QT intervala — uzrok iznenadne smrti. Cardiologia Croatica, 7. (11/12), 263-275. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:684408

Dembić, Maja, et al. "Sindrom dugog QT intervala — uzrok iznenadne smrti." Cardiologia Croatica, vol. 7, no. 11/12, 2012, pp. 263-275. https://urn.nsk.hr/urn:nbn:hr:184:684408

Dembić, Maja, Sandro Brusich, Paula Louise Hedley, Carin Pamela De Villiers, Zlatko Čubranić, Jorgen Kim Kanters, Luka Zaputović and Michael Christiansen. "Sindrom dugog QT intervala — uzrok iznenadne smrti." Cardiologia Croatica 7, no. 11/12 (2012): 263-275. https://urn.nsk.hr/urn:nbn:hr:184:684408

Dembić, M., et al. (2012) 'Sindrom dugog QT intervala — uzrok iznenadne smrti', Cardiologia Croatica, 7(11/12), pp. 263-275. Available at: https://urn.nsk.hr/urn:nbn:hr:184:684408 (Accessed 10 May 2024)

Dembić M, Brusich S, Louise Hedley P, De Villiers CP, Čubranić Z, Kanters JK, and sur.. Sindrom dugog QT intervala — uzrok iznenadne smrti. Cardiologia Croatica [Internet]. 2012 [cited 2024 May 10];7(11/12):263-275. Available at: https://urn.nsk.hr/urn:nbn:hr:184:684408

M. Dembić, et al., "Sindrom dugog QT intervala — uzrok iznenadne smrti", Cardiologia Croatica, vol. 7, no. 11/12, pp. 263-275, 2012. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:684408. [Accessed: 10 May 2024]

Metadata
Title (croatian)Sindrom dugog QT intervala — uzrok iznenadne smrti
Title (english)Long QT syndrome — a cause of sudden death
AuthorMaja Dembić
AuthorSandro Brusich
AuthorPaula Louise Hedley
AuthorCarin Pamela De Villiers
AuthorZlatko Čubranić
AuthorJorgen Kim Kanters
AuthorLuka Zaputović
AuthorMichael Christiansen
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Internal Medicine)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Internal Medicine
Abstract (croatian)
Sindrom dugog QT intervala (LQTS) je primarni aritmijski poremeÊaj koji moæe dovesti do pojave malignih ventrikularnih aritmija tipa torsades de pointes (TdP) i iznenadne srËane smrti. Obiljeæja u elektrokardiogramu (EKG) ukljuËuju produljenje korigiranog QT intervala i abnormalnosti T-vala. Do danas identificirana genetska osnova za LQTS ukljuËuje trinaest podloænih gena: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1, i KCNJ5. NajËeπÊi genotip su mutacije KCNQ1 te gotovo polovica pacijenata ima tu vrstu mutacije. Navedeni geni kodiraju ionske kanale i regulatorne proteine koji su ukljuËeni u modulaciju struja srËanog akcijskog potencijala. SteËeni oblici LQTS-a mogu takoer biti uzrokovani genetskim mutacijama, u tim sluËajevima nositelji mutacija razvijaju aritmije iskljuËivo u odreenim uvjetima (npr. uporaba odreenih lijekova). Trenutna terapija ukljuËuje primjenu beta-blokatora, ugradnju implantabilnog kardioverter defibrilatora (ICD) te simpatiËku denervaciju srca. LQTS mutacije povezane su s iznenadnom srËanom smrti kod mladih i veoma mladih; a post-mortem genetska testiranja LQTS gena mogu biti korisna kod procjene uzroka iznenadne neobjaπnjive smrti (sudden unexplained death). Kaskadni probir koristan je za identificiranje asimptomatskih Ëlanova obitelji koji mogu biti pod poveÊanim rizikom od iznenadne smrti. U ovom preglednom Ëlanku prikazali smo gene povezane s LQTS-om zajedno s opisom povezanih patofizioloπkih mehanizama.
Abstract (english)
Long QT syndrome (LQTS) is a primary arrhythmic disorder that may lead to the precipitation of torsades de pointes (TdP) and sudden death. Electrocardiogram (ECG) features include prolongation of the corrected QT interval and T-wave abnormalities. The genetic basis of LQTS identified to date includes thirteen susceptibility genes: KCNQ1, KCNH2, SCN5A, ANK2, KCNE1, KCNE2, KCNJ2, CACNA1C, CAV3, SCN4B, AKAP9, SNTA1, and KCNJ5. Mutations in KCNQ1 are by far the most frequent genotype with nearly half of the patients carrying KCNQ1 mutations. These genes code for ion channels and regulatory proteins that are involved in the modulation of the currents of the cardiac action potential (AP). Acquired forms of LQTS may also have underlying genetic mutations, in these cases mutation carriers develop arrhythmias only under certain conditions (e. g. use of certain medications). Current therapies include use of beta-blockers, implantable cardioverter defibrillators (ICD) and left cardiac sympathetic denervation. LQTS mutations have been associated with sudden death in the young and very young; and postmortem genetic testing in LQTS genes can be useful when assessing the cause of a sudden unexplained death. Cascade screening is also useful to identify asymptomatic family members that may be at risk of sudden death. Here we have reviewed the genes associated with LQTS along with the description of the related pathophysiological mechanisms
Keywords (croatian)
Keywords (english)
Languagecroatian
Languageenglish
Publication typeProfessional paper - Review paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCardiologia Croatica
Numberingvol. 7, no. 11/12, pp. 263-275
p-ISSN1848-543X
e-ISSN1848-5448
URN:NBNurn:nbn:hr:184:684408
Publication2012
Document URLhttp://www.kardio.hr/pdf/Cardiologia%20Croatica%202012_7_11-12_263-275.pdf
Type of resourceText
Access conditionsOpen access
Terms of useLicence Attribution 4.0 International (CC BY 4.0) icon
Created on2018-01-20 22:42:24