Sindrom dolge QT dobe LQTS. Uroš Mazić Pediatrična klinika Ljubljana UKC Ljubljana
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1 Sindrom dolge QT dobe LQTS Uroš Mazić Pediatrična klinika Ljubljana UKC Ljubljana
2 SADS Sindrom dolge dobe QT (LQTS) Brugada sindrom (BrS) Kateholaminergična polimorfna ventrikularna tahikardija (CPVT) Sindrom zgodnje repolarizacije (ERS) Idiopatska ventrikularna fibrilacija (IVF) progresivna motnja srčnega prevodnega sistema - (PCCD - progressive cardiac conduction defect) Familiarna atrijska fibrilacija (FAF) Sindrom kratke dobe QT (SQTS)
3 LQTS zgodovina 1856: Friedrich Ludwig Meissner :gluha deklica umrla v šoli medtem ko je bila javno opozorjena. Starši povedo da sta umrla dva brata po močnem vzburjenju (strah, bes) 1957: Anton Jervell and Fred Lange-Nielsen prvi popolni opis LQTS. "Jervell, Lange-Nieslen syndrome". 1963/64: Romano and O. Connor Ward 1979: Crampton, Moss and Schwartz pričnejo z International Registry for LQTS : Identificirani prvi trije LQTS geni
4 Incidenca
5 Patofiziologija 13 genov, preko 400 mutacij 50-70% bolnikov genotipiziranih Gene Syndrome Frequency Locus Protein (Functional Effect) KCNQ1 (LQT1) RWS, JLNS p15.5 Kv7.1 ( ) KCNH2 (LQT2) RWS q35 36 Kv11.1 ( ) SCN5A (LQT3) RWS p21 p24 NaV1.5 ( ) ANKB (LQT4) RWS <1% 4q25 q2 7 Ankyrin B ( ) KCNE1 (LQT5) RWS, JLNS <1% 21q22.1 MinK ( ) modifikacijski geni, polimorfizmi in nepovezani geni lahko spreminjajo klinično sliko pri posameznih članih družine - heterogenost in variabilna ekspresija KCNE2 (LQT6) RWS <1% 21q22.1 MiRP1 ( ) KCNJ2 (LQT7) AS <1% 17q23 Kir2.1 ( ) CACNA1C (LQT8) TS <1% 12p13.3 L-type calcium channel ( ) CAV3 (LQT9) RWS <1% 3p25 Caveolin 3 ( ) SCN4B (LQT10) RWS <1% 11q23.3 Sodium channel-β4 ( ) AKAP9 (LQT11) RWS <1% 7q21 q2 2 Yotiao ( ) SNTA1 (LQT12) RWS <1% 20q11.2 Syntrophin α1 ( ) KCNJ5 (LQT13) RWS <1% 11q24 Kir3.4 ( )
6 Električne značilnosti LQTS
7 QT doba- kako merimo? Standardni 12-kanalni ECG zapis (25 mm/s, 10 mm/mv amplitudo) Višje hitrosti(50 mm/sec) lahko vodijo do raztegnjenja nizkoamplitudnih valov - U vala. vzamemo srednjo vrednost 3 5 ciklov in merimo od začetka QRS do konca T vala. Meri v odvodu II, V5 ali V6 in uporabimo najdaljšo vrednost
8 QT doba- kako merimo? Nariši izolinijo čez PR segment Nariši tangento čez največji naklon konca T vala. Če imamo T val z dvema grbama ali bi-fazni izberemo grbo oz. del T vala z bolj strmim naklonom QT od začetka QRS presečišča tangente in izolinije. Če QRS > 120ms, potem QT= izmerjeni QT- (širina QRS-120ms). Izračunaj QTc po Bazett-ovi formuli ROČNO!!!!! Podceni QTc pri visokih fr. in preceni pri nizkih (<60). idealen pri 60-90/min. Alternativa je Fridericia's formula, QTc = QT/RR1/3 (<150 /min).
9 QTc- vrednosti Kako dolgo je predolgo? Normalna vrednost ACC / HRS. [2] pod 440 ms za otroke, pod 450 ms za moške in pod 460 ms za ženske ACC konsenz (2010) podaljšana QTc > 99th percentilo normale: 460 ms otroci 470ms za moške 480 ms za ženske 10% to 20% splošne populacije ima QTc > 440ms. QTc > 500ms je zmeraj abnormalen - podaljšan. [3] 2. Circulation.2009;119: e241-e J Am Coll Cardiol. 2010;55(9):
10 LQTS- T valovi
11 Nazobčan (notched) T val Notched T val v levih prekordialnih odvodih nas lahko opozori na LQTS tudi če ni podaljšanega QTc. Najpogosteje pri LQT2.
12 EKG značilnosti LQT1,2,3 LQT1: visoki, široko bazni T valovi LQT2: nazobčani, dvogrbi, nizko-voltažni T valovi LQT3: T valovi, ki izhajajo po prolongiranem ST segmentu Ruan Y et al. Circ Arrhythm Electrophysiol. 2008;1:
13 Diagnoza LQTS točkovni sistem: Schwartz kriteriji provokacijski testi obremenitveno testiranje adrenalinski test genetsko testiranje ne izključuje bolezni 25-40%, ki so genetsko pozitivni imajo normalne vrednosti QTc
14 Electrocardiographic findings* QTc, ms Points A (men) 1 B QTc 4th minute of recovery from exercise stress test 480 ms 1 C Torsades-de-Pointes 2 D T-wave alternans 1 E Notched T wave in 3 leads 1 F Low heart rate for age 0.5 Clinical history Syncope A With stress 2 Without stress 1 B Congenital deafness 0.5 Family history A Family members with definite LQTSǁ 1 B Unexplained sudden cardiac death younger than age 30 among immediate family membersǁ 0.5 LQTS indicates long-qt syndrome. * In absence of medications or disorders known to affect these electrocardiographic features. QTc calculated by Bazett formula where QTc=QT/ RR. Mutually exclusive. Resting heart rate below the second percentile for age. ǁ The same family member cannot be counted in A and B. Score: 1 point: low probability of LQTS; points: intermediate probability of LQTS; 5 points: high probability.
15 Diagnoza LQTS- problemi pravilno izmerjena QTc doba 50-70% nosilcev mutacije ima dejansko podaljšano QTc dobo na EKG 30% % < 0.44 Vincent GM. Long QT sydrome.cardiol Clin 2000;18;
16 Prognoza 30-50% nosilcev mutacij nima nikoli simptomov 4-11% (13,5%) nosilcev mutacij doživi zastoj srca ali utrpi nenadno srčno smrt v 30% je prvi simptom nenadna smrt Vincent GM et al. Congenital LQTS. Cardiac Electrophysiology Rev 2002;6: Zareba W et al. ICD in high-risk LQTS patients. J Cardovasc Electrophysiol 2003;14: Vincent GM et al. The spectrum of symptoms and QT intervals in carriers of the gene for LQTS. N Engl J Med 1992;327:
17 Dejavniki tveganja za nenadno srčno smrt visoko ogroženi: moški z LQT 3 ženske z LQT 2 v poporodnem obdobju QTc 500 msec starost ob nastopu simptomov (neonatalna prezentacija - 16% smrtnost) 30% bolnikov bo po prvem srčnem zastoju doživelo ponoven zastoj srca kljub terapiji z β-blokerji Garson A JR et al. The LQTS in children. An international study of 287 patients. Circulation 1993;87: Moss AJ et al. Effectivness and limitations of beta-blocker therapy in congenital LQTS. Circulation 2000;101:616.
18 LQTS ni linearne povezanosti med dolžino QTc dobe in kliničnim tveganjem močno povišano tveganje je pri QTc > 600 ms, QTc disperzija > 100 ms, alterantnih T valovih QTc > 450 ms pri moški / > 470 pri ženskah pod 68 let 8-krat poveča tvegaje za nenadno smrt (7000 bolnikov) J Am Coll Cardiol 2006;47:362-7 QTc > 500 ms pri otrocih < 10 let riziko SCD 2.7-krat J Am Coll Cardiol 2006;48:
19 LQTS (International LQTS registry - JAMA 2006: 2772 bolnikov) neodvisni dejavniki tveganja za SCD/zastoj srca pri adolescentih so nedavna sinkopa, trajanje QTc dobe in spol DEJAVNIK TVEGANJA ZA NENADNO SMRT PRI OTROCIH Z LQTS (JAMA 2006;296: ) Nenadna srčna smrt (stopnja tveganja) Prekinjena nenadna srčna smrt (stopnja tveganja) 1 sinkopa pred 2 do10 leti in ne v zadnjih 2 letih 4,2 2,7 2 sinkopi v 2 do10 letih in ne v zadnjih 2 letih 6,2 5,8 1 sinkopa v zadnjih 2 letih 8,2 11,7 2 sinkopi v zadnjih 2 letih 15,0 18,1 QTc 530 3,1 2,3 dečki : deklice med letom 11,6 4,0
20 LQT1,2,3 - sprožilni dejavniki Ruan Y et al. Circ Arrhythm Electrophysiol. 2008;1:
21 Preživetje: nezdravljen LQTS
22 Zdravljenje LQTS
23 Primerjava LQT1,2,3 LQT1 LQT2 LQT3 Ruan Y et al. Circ Arrhythm Electrophysiol. 2008;1:
24 LQTS spol, gen, dolžina QTc J Am Coll Cardiol. 2006;47(1):9-21. doi: /j.jacc Kaplan-Meier estimates of cumulative survival free of cardiac events among the 580 patients with the long QT syndrome in the risk stratification analysis, according to gender and the QT interval corrected for heart rate (QTc), in the group with a mutation at the LQT1 locus (A), the group with a mutation at the LQT2 locus (B), and the group with a mutation at the LQT3 locus (C). N Engl J Med 2003;348:
25 Srčni dogodki pri LQTS From Zareba W, et al. NEJM 339: , 1998
26 Tveganje -geni
27 Verjetnost pomena missense mutacije radical mutations have a >90% probability of being a true pathogenic mutation, the level of probability for missense mutations varies, depending on their location, for each channel protein Tester D J, Ackerman M J Circulation 2011;123:
28 Vpliv mesta mutacije LQT1 LQT2 LQT3
29 Vpliv mesta mutacije glede na dolžino QTc QTc 440 QTc >440 Kaplan-Meier cumulative probabilities of aborted cardiac arrest (ACA) and sudden cardiac death (SCD) by mutation location and type in patients with long-qt syndrome (LQTS) with (A) corrected QT (QTc) intervals 440 ms and (B) QTc intervals >440 ms.
30 LQTS šport 36th Bethesda Conference, priporoča da naj bolniki ne sodelujejo v večini športov če imajo (1) simptome, (2) QTc > 470 msec (moški) ali 480 msec (ženske), (3) vstavljen ICD ESC priporočila so še bolj restriktivna in izključujejo udeležbo športnikov pri vseh športih če: QTc >440 msec za moške, >460 msec pri ženskah
31 LQTS- športnik Competitive Sports Participation in Athletes With Congenital Long QT Syndrome JAMA. 2012;308(8): bolnikov (37%, 60 žensk; starost :11 [7] let; QTc, 471 [46] msec) ostane v tekmovalnem športu, vključno z 20 ki imajo ICD. 70 LQTS atletov (54%) v nasprotju z ESC priporočili vendar še v mejah Bethesda priporočil. Nihče ni imel s športom povezanega dogodka. 60 LQTS atletov (46%) v nasprotju z ESC in Bethesda priporočili 9-letni deček LQT1, QTc >550 msec), in z anamnezo abortirane SCD. Prejel je 2 ustrezna ICD šoka zaradi VF med ogrevanjem. oba posledica ne jemanja beta blokerja Current guideline-based recommendations for disqualification may be excessive for this disease.
32 LQTS -športnik pri mladoletnem, športnik in oba starša morajo soglašati z nadaljevanjem športa prilagojeno zdravljenje, ki nujno vsebuje β-blokerje, levo srčno simpatično denervacijo, ICD, ali kombinacijo. izogibanje zdravil ki podaljšujejo QT dobo, nadomeščanje elektrolitov in hidracija in ukrepi za minimiziranje dviga centralne telesne temperature Vsak športnik mora imeti AED kot del športne opreme, ustrezno obveščanje in izobrazba šolskih oz športnih delavcev in trenerjev.
33 Kaj smo se naučili? genetska mutacija sama za sebe ne pomeni avtomatsko bolezni oz. povečanega tveganja, še zlasti pri posameznikih, ki nimajo simptomov in imajo normalen QTc ( povprečen <0.44) BC#36, dovoljuje tekmovalne aktivnosti pri vseh asimptomatskih genotip pozitivnih in fenotip negativnih posameznikih (izjema vodni športi), v nasprotju z ESC priporočili Še vedno pa veljajo ESC in BC#36 priporočila, ki pravijo, da bolnikom z LQTS odsvetujemo tekmovalne aktivnosti v primeru: simptomov QTc presega zgornje vrednosti (>0.47 s moški ali >0.48 s ženske) impalntiran ICD
34 Primer 1 18-letno dekle: sinkopa pred 2 dnevi med tekom. zanika bolečino, težave z dihanjem, palpitacije ali vrtoglavice pred dogodkom. Ne jemlje zdravil, ni na dijeti in ni imela nikoli podobnih težav. Njen mlajši brat imel podobno sinkopo Ob pregledu: vitalni znak normalni. Klinični pregled v mejah normale in brez posebnosti.
35 Primer 1 glede na EKG, kaj je diagnoza QTc= 600 Long QT syndrome NORME vsak QTc > 460 pri ženskah, oz. >450 pri moških je podaljšan; za športnike po ESC podaljšan za ženske >460, moški >440 absolutno podaljšan pa je nad 99percentilo > 470 moški in >480 ženske
36 Primer 1 Ukrepi: prepoved tekmovalnega športa Uvedba beta blokatorja genetsko testiranje pregled družinskih članov
37 Primer 2 14 letni deček prihaja na pregled zaradi vključevanja v aktivne treninge asimtomatski, klinični status normalen Oče umrl med smučanjem v starosti 38 let, obdukcija negativna
38 Primer 2 EKG: QTc = 480, notched T valovi Ali dovolimo šport? asimtomatski (QTc?) NE : QTc > 440 (ESC) in >470 AHA, notched T valovi, smrt, QTc : SCHWARTZ kriteriji >5 UKREPI
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41 Cilj preventivnih pregledov Odkriti posameznike ki so ogroženi ki ne vejo da so ogroženi Daj ustrezna priporočila o telesni aktivnosti: omejujemo samo tekmovalne aktivnosti
42 Brez panike Organiziraj se Center za športno kardiologijo LQTS
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