서론 - 대상및방법 결과 임상적특성 Table 1. Clinical characteristics of the study patients No Sexage FHx Provocating factor Structural heart ds Clinical manifestatio

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1 Original Articles Korean Circulation J 2002;329: 선천성 QT 연장증후군의임상적특성에대한고찰 김정호 1 남기병 1 김현국 1 이경석 1 한기훈 1 최기준 1 고재곤 2 박인숙 2 김유호 1 Clinical and Electrocardiographic Features of Patients with Congenital Long QT Syndrome Jung-Ho Kim, MD 1, Gi-Byoung Nam, MD 1, Hyun Kuk Kim, MD 1, Kyoung-Suk Rhee, MD 1, Ki Hoon Han, MD 1, Kee-Joon Choi, MD 1, Jae Kon Ko, MD 2, In-Sook Park, MD 2 and You-Ho Kim, MD 1 1 Department of Internal Medicine, 2 Pediatrics, Ulsan University College of Medicine, Asan Medical Center, Seoul, Korea ABSTRACT Background and ObjectivesCongenital long QT syndrome LQTS is characterized by the prolongation of the QT interval, frequent episodes of syncope and Torsades de Pointes TdP. The clinical features and electrocardiographic findings in Korean patients with LQTS have not been reported. Subjects and MethodsWe retrospectively analyzed the clinical characteristics, ECG features and response to treatments in 11 patients 6 men, 5 women with congenital LQTS. ResultsThe mean age at the time of the first episode was years old range170 years. Clinical presentations were syncope, seizure or sudden cardiac death SCD. Predisposing factors included exercise, sudden startle or sleep. Only three patients showed familial histories of syncope or SCD. The average QTc interval was second range seconds. T wave morphologies were classified as normal-appearing, broad-based, low amplitude/bifid or late onset. For its management, bblockers were used in 7 patients. In 2 patients, whose clinical events were related with to an increased vagal tone or were aggravated by blocker therapy, mexiletine was prescribed. When bradycardia or AV block was documented, pacemakers were implanted. For 2 patients at high risk of sudden cardiac death, cardioverter-defibrillators were implanted. During a mean follow up period of months range364 months, symptoms cardiac arrest recurred in 1 patient.conclusioncongenital LQTS is a heterog-eneous disease, showing diverse clinical manifestations, ECG features, and response to pharmacological management. Further research on the genotype-phenotype relationship will refine the management, enabling gene-specific treatment of this life-threatening disease. Korean Circulation J 2002;32 9: KEY WORDSLong QT syndromeelectrocardiographydeath, suddensyncopearrhythmia. 798

2 서론 - 대상및방법 결과 임상적특성 Table 1. Clinical characteristics of the study patients No Sexage FHx Provocating factor Structural heart ds Clinical manifestation 01 M21 Isometric exercise Palpitation, syncope, TdP 02 0F430 Sudden startle Palpitation, syncope, TdP 03 0F420 Sleeping resting Aborted cardiac arrest 04 M80 Isotonic exercise Syncope 05 M30 Non-specific Seizure, deafness both 06 F40 Non-specific Aborted cardiac arrest TdP, CAVB 07 M30 Sleeping Small VSD Seizure 08 M12 Isotonic exercise Syncope 09 F60 Non-specific Aborted cardiac arrest 10 M10 Non-specific Seizure 11 F70 Non-specific Palpitation, syncope, TdP TdPtorsades de pointes, LOCloss of consciousness, CAVBcomplete atrioventricular block ICDimplantable cardioverter/defibrillator, FHxfamiliar history, VSDventricular septal defect 799

3 Fig. 1. Induction of TdP during exercise provocation test. TdP was induced by isometric exercise test chest pressor in patient 1. Tachycardia was not induced after repeated attempts of isotonic treadmill exercise test, while being induced reproducibly by chest pressor. This suggests that tachycardia induction in congenital long QT syndrome is dependent on the type of exercise. TdPtorsades de pointes. - Table 2. ECG characteristics No QTQTc T wave pattern Bifid T wave Normal appearing T wave T wave inversion V Late onset T wave T wave alternans Broad based T wave Broad based T wave Normal appearing T wave Broad based or biphasic T Wave Broad based T wave T wave alternans Normal appearing T wave T wave inversion V Normal appearing T wave Pseudo 21 AV block Low amplitude T wave AV blockatrioventricular block 검사소견 Korean Circulation J 2002;329:

Anormal-appearing T wave pattern patient 1, Bbroad-based T wave pattern patient 5, Clow-amplitude

4 심전도상의특징 - 치료및추적관찰기간 Fig. 2. Different patterns of ST-T wave complex in patients with long QT syndrome. Anormal-appearing T wave pattern patient 1, Bbroad-based T wave pattern patient 5, Clow-amplitude bifid T wave pattern patient 2, Dlate onset T wave patient 3. Fig. 3. T wave alternans. Alternation of the T wave amplitude and polarity was recorded during Holter monitoring patient

5 Fig. 4. First degree or 21 pseudo AV block. Functional AV block occurred in the setting of fast atrial rate and dramatically prolonged ventricular replorization as the P waves fell within the T wave Patient 10. Table 3. Treatment and follow-up periods No Treatment Follow-up periods month 01 blocker, ICD blocker, ICD Isoproterenol, mexiletine None F/U loss 05 blocker, ICD refused blocker, pacemaker Mexiletine, pacemaker blocker blocker, ICD refused Observation blocker 43 ICDimplantable cardioverterdefibrillator - 고찰 802 Korean Circulation J 2002;329:

7 Korean Circulation J 2002;329:

8 결론 요약 배경및목적 : - 방법 : 결과 : 결론 : 중심단어 REFERENCES 1) Chiang CE, Roden DM. The long QT syndrome: genetic basis and clinical implications. J Am Coll Cardiol 2000;36: ) Viskin S. Long QT syndromes and torsade de pointes. Lancet 1999;354: ) Passman R, Kadish A. Polymorphic ventricular tachycardia, long QT syndrome, and torsades de pointes. Med Clin North Am 2001;85: ) Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze- Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R. Genotype-phenotype correlation in the long-qt syndrome: genespecific triggers for life-threatening arrhythmias. Circulation 2001;103: ) Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome: an update. Circulation 1993;88: ) Moss AJ, Zareba W, Benhorin J, Locati EH, Hall WJ, Robinson JL Schwartz PJ, Towbin JA, Vincent GM, Lehmann MH. ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome. Circulation 1995;92: ) Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, Shen J, Splawski I, Priori SG, Compton SJ, Yano- 805

9 witz F, Benhorin J, Moss AJ, Schwartz PJ, Robinson JL, Wang Q, Zareba W, Keating MT, Towbin JA, Napolitano C, Medina A. Spectrum of ST-T-wave patterns and repolarization parameters in congenital long QT syndrome: ECG findings identify genotypes. Circulation 2000;102: ) Vincent GM, Timothy KW, Leppert M, Keating M. The spectrum of symptoms and QT intervals in carriers of the gene for the long QT syndrome. N Engl J Med 1992;327: ) Dillenburg RF, Hamilton RM. Is Exercise testing useful in identifying congenital long QT syndrome? Am J Cardiol 2002; 89: ) Swan H, Toivonen L, Viitasalo M. Rate adaptation of QT intervals during and after exercise in children with congenital long QT syndrome. Eur Heart J 1998;19: ) Vincent GM. Role of DNA testing for diagnosis, management, and genetic screening in long QT syndrome, hypertrophic cardiomyopathy, and Marfan syndrome. Heart 2001;86: ) Viskin S, Belhassen B. Polymorphic ventricular tachyarrhythmias in the absence of organic heart disease: classification, differential diagnosis and implications for therapy. Prog Cardiovasc Dis 1998;41: ) Sanguinetti MC, Curran ME, Zou A, Shen J, Spector PS, Atkinson DL, Keating MT. Coassembly of K V LQT1 and mink IsK proteins to form cardiac I Ks potassium channel. Nature 1996;384: ) Barhanin J, Lesage F, Guillemare E, Fink M, Lazdunski M, Romey G. K V LQT1 and lsk mink proteins associate to form the I Ks cardiac potassium current. Nature 1996; 38: ) Abbott GW, Sesti F, Splawski I, Buck ME, Lehmann MH, Timothy KW, Keating MT, Goldstein SA. MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia. Cell 1999;97: ) Wei J, Wang DW, Alings M, Fish F, Wathen M, Roden DM, George AL Jr. Congenital long-qt syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na channel. Circulation 1999;99: ) An RH, Wang XL, Kerem B, Benhorin J, Medina A, Goldmit M, Kass RS. Novel LQT-3 mutation affects Na channel activity through interactions between alpha- and beta1-subunits. Circ Res 1998;83: ) Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP. Mapping of a gene for long QT syndrome to chromosome 4q Am J Hum Genet 1995;57: ) Schulze-Bahr E, Wang Q, Wedekind H, Haverkamp W, Chen Q, Sun Y, Rubie C, Hordt M, Towbin JA, Borggrefe M, Assmann G, Qu X, Somberg JC, Breithardt G, Oberti C, Funke H. KCNE1 mutations cause jervell and Lange-Nielsen syndrome. Nat Genet 1997;17: ) Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ. Influence of the genotype on the clinical course of the long-qt syndrome. N Engl J Med 1998;339: ) Schwartz PJ. The long QT syndrome. Curr Prob Cardiol 1997; 22: ) Moss AJ, Zareba W, Hall WJ, Schwartz PJ, Crampton RS, Benhorin J, Vincent GM, Locati EH, Priori SG, Napolitano C, Medina A, Zhang L, Robinson JL, Timothy K, Towbin JA, Andrews ML. Effectiveness and limitations of -blocker therapy in congenital long QT syndrome. Circulation 2000; 101: ) Hanck DA, Sheets MF. Modification of inactivation in cardiac sodium channels: ionic current studies with Anthopleurin-A toxin. J Gen Physiol 1995;106: ) Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantu F, Towbin JA, Keating MT, Hammoude H, Brown AM, Chen LS. Long QT syndrome patients with mutation of the SCN5A and HERG genes have differential responses to Na channel blockade and to intreases in heart rate: implications for genetic specific therapy. Circulation 1995;92: ) Shimizu W, Antzelevitch C. Sodium channel block with mexilletine is effective in reducing dispersion of repolarization and preventing torsades de pointes in LQT2 and LQT3 models of the long-qt syndrome. Circulation 1997;96: ) Garson A Jr, Dick M 2nd, Fournier A, Gillette PC, Hamilton R, Kugler JD, van Hare GF 3rd, Vetter V, Vick GW 3rd. The long QT syndrome in children: an international study of 287 patients. Circulation 1993;87: ) Trippel DL, Parsons MK, Gillette PC. Infants with long-qt syndrome and 2: 1 atrioventricular block. Am Heart J 1995; 130: ) Rosenbaum MB, Acunzo RS. Pseudo 21 atrioventricular block and T wave alternans in the long QT syndromes. J Am Coll Cardiol 1991;18: ) Scott WA, Dick M 2nd. Two: one atrioventricular block in infants with congenital long QT syndrome. Am J Cardiol 1987; 60: ) Splawski I, Timorthy K, Vincent GM, Atkinson DL, Keating MT. Molecular basis of the long QT syndrome associated with deafness. N Engl J Med 1997;336: Korean Circulation J 2002;329:

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ºÎÁ¤¸ÆV10N³»Áö case of brugada syndrome presented as chest pain STRCT rugada syndrome was described in 1992 as a new clinical entity characterized by electrocardiographic STsegment elevation in the right precordial leads