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Uzun QT sendromları

Year 2009, Volume: 31 Issue: 4, 487 - 501, 24.03.2009

Gökhan Bektaşoğlu Mehmet Yılmaz Okan Turgut İzzet Tandoğan

Abstract

Özet

Konjenital uzun QT sendromu (LQTS), membran iyon kanallarındaki yapısal ve fonksiyonel defektlere bağlı olduğunu göstermiştir. Günümüzde konjenital uzun QT sendromlarının 12 farklı alt tipi tanımlanmıştır.Konjenital LQTS' nin ana tipleri; otozomal dominant geçişli Romano-Ward ve otozomal resesif geçişli Jervell ve Lange-Nielsen sendromlarıdır. Akkiz LQTS konjenital forma kıyasla daha sık görülmektedir. Sendromun akkiz formu genellikle ilaçlara, elektrolit bozukluklarına, bradikardiye, toxinlere ve miyokardiyal iskemi gibi faktörlere bağlıdır. Ani kardiyak ölüm, senkop ve presenkop, sendromun Torsade de pointes nedeniyle gelişen klinik özelliklerini oluşturmaktadır. Akkiz formda tedavi sorumlu ajanın kesilmesi, elektrolit bozukluklarının giderilmesi gibi nedene yöneliktir. Konjenital LQTS de ise beta adrenoreseptör blokerleri tedavideki ilk basamaktır. Beta-blokerlere cevap alınamayan hastalarda servikal torasik sempatektomi, kalp pili ve ICD alternatif tedavi yöntemleridir.

Anahtar sözcükler: Uzun QT sendromu, Romano Ward sendromu, Jervell ve Lange-Nielsen sendromu, torsades de pointes, iyon kanalları.

 

Abstract

Long QT syndrome (LQTS) is related to the functional and structural defects in the membrane ion channels. Untill so far, 12 subtype of LQT syndrome was defined. The main types of congenital LQTS are Romano-Ward syndrome and Jervell and Lange-Nielsen syndrome. Acquired form of LQTS is more frequent according to the congenital LQTS. Acquire form of the syndrome is mainly secondary to drugs, electrolyte imbalances, bradycardia, toxins and myocardial ischemia. Sudden cardiac death, syncope and presyncope are the clinical features which are caused by Torsade de pointes. Treatment in acquired form should focus on the reason: removal of the causative agent, correcting electrolyte imbalance and so forth. However beta adrenoreceptor blockers is the first step in treatment of congenital LQTS. In patients with no response to beta-blockers; cervical thoracic sympathectomy, cardiac pacing and ICDs are alternative treatment modalities.

Keywords: Long QT syndrome, Romano Ward syndrome, Jervell and Lange-Nielsen syndrome, torsades de pointes, ionic channels

Keywords

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References

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Uzun QT sendromları

Year 2009, Volume: 31 Issue: 4, 487 - 501, 24.03.2009

Gökhan Bektaşoğlu Mehmet Yılmaz Okan Turgut İzzet Tandoğan

Abstract

Konjenital uzun QT sendromu (LQTS), membran iyon kanallarındaki yapısal ve fonksiyonel defektlere bağlı olduğunu göstermiştir. Günümüzde konjenital uzun QT sendromlarının 12 farklı alt tipi tanımlanmıştır.Konjenital LQTS‟ nin ana tipleri; otozomal dominant geçişli Romano-Ward ve otozomal resesif geçişli Jervell ve Lange-Nielsen sendromlarıdır. Akkiz LQTS konjenital forma kıyasla daha sık görülmektedir. Sendromun akkiz formu genellikle ilaçlara, elektrolit bozukluklarına, bradikardiye, toxinlere ve miyokardiyal iskemi gibi faktörlere bağlıdır. Ani kardiyak ölüm, senkop ve presenkop, sendromun Torsade de pointes nedeniyle gelişen klinik özelliklerini oluşturmaktadır. Akkiz formda tedavi sorumlu ajanın kesilmesi, elektrolit bozukluklarının giderilmesi gibi nedene yöneliktir. Konjenital LQTS de ise beta adrenoreseptör blokerleri tedavideki ilk basamaktır. Beta-blokerlere cevap alınamayan hastalarda servikal torasik sempatektomi, kalp pili ve ICD alternatif tedavi yöntemleridir

Keywords

Uzun QT sendromu Romano Ward sendromu Jervell ve Lange-Nielsen sendromu torsades de pointes iyon kanalları

References

  • Antselevitch C, Shimizu W. Cellular mechanisms underlying the long QT syndrome. Curr Opin Cardiol 2002;17: 43-51. 2.
  • Reardon M, Malik M. QT interval change with age in an overtly healthy older population. Clin Cardiol 1996; 19: 949-52. 3.
  • Moss AJ, Schwartz PJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 1991;84:1136-44. 4.
  • 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 genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med 1998; 339: 960-5.
  • Vincent GM. The molecular genetic of the long QT syndrome: genes causing fainting and sudden death. Annu Rev Med. 1998; 49: 263-74. 6.
  • Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R, Grancini F, Marni ED, Perticone F, Rosti D, Salice P. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 1998; 338: 1709-14. 7.
  • Towbin JA, Vatta M. Molecular biology and the prolonged QT syndromes. Am J Med 2001; 110: 385-98. 8.
  • Grand AO. Molecular biology of sodium channels and their role in cardiac arrythmias. Am J Med 2001; 110: 296-305. 9.
  • Keating M, Atkinson D, Dunn C, Timothy K, Vincent GM, Leppert M. Linkage of a cardiac arrhythmia, the long QT syndrome, and the Harvey ras-1 gene. Science 1991; 252: 704-6.
  • Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogné K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 2003; 421: 634-9. 11.
  • Tristani-Firouzi M, Chen J, Mitcheson JS, Sanguinetti MC. Molecular biology of K(+) channels and their role in cardiac arrrhtymias. Am J Med 2001; 110: 50-9.
  • Chern-En Chiang, Congenital and Acuired Long QT Syndrome: Cardiology in Review 2004; 12: 222-34.
  • Tristani-Firouzi M, Jensen JL, Donaldson MR, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7(Andersen syndrome). J Clin Invest 2002; 110: 381-8.
  • Kass, R.S., and Sanguinetti, M.C. 1984. Calcium channel inactivation in the cardiac Purkinje fiber. Evidence for voltage-and calcium-mediated mechanisms. J Gen Physiol 1984 ;84 :705-26.
  • Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC, Keating MT. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA. 2005;102:8089-96
  • Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. Ankyrin B mutation causes type 4 long QT cardiac arrhytmia and sudde cardiac death. Nature 2003; 421: 634-9.
  • Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 2007; 116: 134-42 18.
  • Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 2006; 114: 2104-12.
  • Chen L, Marquardt ML, Tester DJ, Sampson KJ, Ackerman MJ, Kass RS. Mutation of an A-kinase-anchoring protein causes long-QT syndrome. Proc Natl Acad Sci USA. 2007; 104: 20990-5.
  • Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci 2008; 105: 9355-60.
  • Murray KT, Roden DM. Kardiak repolarizasyon bozuklukları:Uzun QT sendromları. Crawford Kardiyoloji 2003;2:4:15.1-15.10
  • 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 genotype on the clinical course of the long-QT syndrome. N Engl J Med 1998; 339: 960-5.
  • Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, Shen J, Splawski I, Priori SG, Compton SJ, Yanowitz 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: 2849- 55.
  • Ueda K, Valdivia C, Medeiros-Domingo A, Tester DJ, Vatta M, Farrugia G, Ackerman MJ, Makielski JC. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci 2008; 105: 9355-60.
  • Schwartz PJ, Malliani A. Electrical alternation of the T wave:clinical and experimental evidence of its relationship with the sympathetic nervous system and with the long QT syndrome. Am Heart J 1975; 89: 45-50.
  • Priori SG, NapolitanoC, Diehl, Schwartz PJ. Dispersion of the QT interval: a marker of therapeutic efficacy in the idiopathic long QT syndrome. Circulation 1994; 23: 296-301. 27.
  • Lehmann MH, Timothy KW, Frankovich D, Fromm BS, Keating M, Locati EH, Taggart RT, Towbin JA, Moss AJ, Schwartz PJ, Vincent GM. Age-gender influence on the rate-corrected QT interval and the QT-heart rate relation in families with genotypically characterized long QT syndrome. J Am coll Cardiol 1997; 29: 93-9.
  • Makkar RR, Fromm BS, Steinman RT, Meissner MD, Lehmann MH. Female gender as a risk factor for torsade de pointes associated with cardiovascular drugs. JAMA 1993; 270: 2590-7.
  • Kawasaki R, Machado C, Reinoehl J, Fromm B, Baga JJ, Steinman RT, Lehmann MH. Increased propensity of women to devolop torsade de pointes during complete heart block. J Cardiovasc Electrophysiol 1995; 6: 1032-8.
  • Locati EH, Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Lehmann MH, Towbin JA, Priori SG, Napolitano C, Robinson JL, Andrews M, Timothy K, Hall WJ. Age- and sex-related differences in clinical manifestations in patients with congenital long- QT syndrome. Findings from the international LQTS registry. Circulation 1998; 97: 2237-44.
  • Agabeyldskov JA, Lux RL. Mechanisms in adrenergic dependent onset of torsade de pointes. Pacing Clin Electrıphysiol 1997; 20: 88-94.
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There are 73 citations in total.

Details

Primary Language English
Journal Section Reviews
Authors

Gökhan Bektaşoğlu

Mehmet Yılmaz

Okan Turgut

İzzet Tandoğan

Publication Date March 24, 2009
Published in Issue Year 2009Volume: 31 Issue: 4

Cite

AMA Bektaşoğlu G, Yılmaz M, Turgut O, Tandoğan İ. Uzun QT sendromları. CMJ. December 2009;31(4):487-501.