1887
Volume 2015, Issue 2
  • ISSN: 2305-7823
  • E-ISSN:

ملخص

Congenital long QT syndrome, caused by a cardiac channelopathy, is a leading cause of sudden cardiac death in the young population. In total, 16 genes have been implicated in this condition, with three genes being the most commonly affected. Long QT syndrome is one of the earliest conditions for which a genotype specific treatment was designed. This genotype-phenotype correlation extends to involve the clinical presentation, electrocardiographic manifestation and treatment strategies. It is necessary for the clinician treating these patients to be cognizant of the important role played by the genotype in order to best provide counseling and treatment options to this unique population.

Loading

جارٍ تحميل قياسات المقالة...

/content/journals/10.5339/gcsp.2015.26
٢٠١٥-٠٧-٠٤
٢٠٢٤-١٢-٢٦
Loading full text...

Full text loading...

/deliver/fulltext/gcsp/2015/2/gcsp.2015.26.html?itemId=/content/journals/10.5339/gcsp.2015.26&mimeType=html&fmt=ahah

References

  1. Schwartz PJ, Stramba-Badiale M, Crotti L, Pedrazzini M, Besana A, Bosi G, Gabbarini F, Goulene K, Insolia R, Mannarino S, Mosca F, Nespoli L, Rimini A, Rosati E, Salice P, Spazzolini C. Prevalence of the congenital long-QT syndrome. Circulation. 2009; 120::17611767.
    [Google الباحث العلمي]
  2. Tester DJ, Ackerman MJ. Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007; 49::240246.
    [Google الباحث العلمي]
  3. Schwartz PJ, Crotti L, Insolia R, Long QT. syndrome: from genetics to management. Circ Arrhythm Electrophysiol. 2012; 5::868877.
    [Google الباحث العلمي]
  4. Schwartz PJ, Ackerman MJ. The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy. Eur Heart J. 2013; 34::31093116.
    [Google الباحث العلمي]
  5. Schwartz PJ, Crotti L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation Nov. 2011; 124:20:21812184.
    [Google الباحث العلمي]
  6. Amin AS, Tan HL, Wilde AA. Cardiac ion channels in health and disease. Heart Rhythm. 2010; 7::1171126.
    [Google الباحث العلمي]
  7. Schwartz PJ, Ackerman MJ, George AL Jr, Wilde AA. Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol. 2013; 62::169180.
    [Google الباحث العلمي]
  8. Tester DJ, Ackerman MJ. Genetics of Long QT syndrome. Methodist Debakey Cardiovasc J. 2014; 10::2933.
    [Google الباحث العلمي]
  9. Tristani-Firouzi M1, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002; 110::381388.
    [Google الباحث العلمي]
  10. Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, Priori SG, Keating MT, Bennett VA. cardiac arrhythmia syndrome caused by loss of ankyrin-B function. Proc Nat Acad Sci. 2004; 101::91379142.
    [Google الباحث العلمي]
  11. Zareba W. Genotype-specific ECG patterns in long QT syndrome. J Electrocardiol. 2006; 39::S101S106.
    [Google الباحث العلمي]
  12. Moss AJ1, 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::29292934.
    [Google الباحث العلمي]
  13. Antzelevitch C. Molecular genetics of arrhythmias and cardiovascular conditions associated with arrhythmias. J Cardiovasc Electrophysiol. 2003; 14::12591272.
    [Google الباحث العلمي]
  14. 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::28492855.
    [Google الباحث العلمي]
  15. Priori SG, Napolitano C, Schwartz PJ. Low penetrance in the long-QT syndrome: clinical impact. Circulation. 1999; 99::529533.
    [Google الباحث العلمي]
  16. Sy RW, van der Werf C, Chatta IS, Chockalingam P, Adler A, Healey JS, Perrin M, Gollob MH, Skanes AC, Yee R, Gula LJ, Leong –Sit P, Viskin S, Klein GJ, Wilde AA, Krahn AD. Derivation and validation of a simple exercise-based algorithm for prediction of genetic testing in relatives of LQTS probands. Circulation. 2011; 124::21872194.
    [Google الباحث العلمي]
  17. Aziz PF, Wieand TS, Ganley J, Henderson J, Patel AR, Iyer VR, Vogel RL, McBride M, Vetter VL, Shah MJ. Genotype- and mutation site-specific QT adaptation during exercise, recovery, and postural changes in children with long-QT syndrome. Circ Arrhythm Electrophysiol. 2011; 4::867873.
    [Google الباحث العلمي]
  18. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napoli- tano 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: gene-specific triggers for life-threatening arrhythmias. Circulation. 2001; 89:95.
    [Google الباحث العلمي]
  19. Wilde AA, Jongbloed RJ, Doevendans PA, Düren DR, Hauer RN, van Langen IM, van Tintelen JP, Smeets HJ, Meyer H, Geelen JL. Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KvLQT1-related patients (LQTS1). J Am Coll Cardiol. 1999; 33::327332.
    [Google الباحث العلمي]
  20. Khositseth A, Tester DJ, Will ML, Bell CM, Ackerman MJ. Identification of a common genetic substrate underlying postpartum cardiac events in congenital long QT syndrome. Heart Rhythm. 2004; 1::6064.
    [Google الباحث العلمي]
  21. Stramba-Badiale M, Priori SG, Napolitano C, Locati EH, Viñolas X, Haverkamp W, Schulze-Bahr E, Goulene K, Schwartz PJ. Gene-specific differences in the circadian variation of ventricular repolarization in the long QT syndrome: a key to sudden death during sleep? Ital Heart J. 2000; 1::323328.
    [Google الباحث العلمي]
  22. Priori SG, Schwartz PJ, Napolitano C, Bloise R, Ronchetti E, Grillo M, Vicentini A, Spazzolini C, Nastoli J, Bottelli G, Folli R, Cappelletti D. Risk stratification in the long-QT syndrome. N Engl J Med. 2003; 348::18661874.
    [Google الباحث العلمي]
  23. Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-Bahr E, Denjoy I. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation. 2006; 113::783790.
    [Google الباحث العلمي]
  24. Mullally J1, Goldenberg I, Moss AJ, Lopes CM, Ackerman MJ, Zareba W, McNitt S, Robinson JL, Benhorin J, Kaufman ES, Towbin JA, Barsheshet A. Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013; 10::378382.
    [Google الباحث العلمي]
  25. Barsheshet A, Goldenberg I, O-Uchi J, Moss AJ, Jons C, Shimizu W, Wilde AA, McNitt S, Peterson DR, Zareba W, Robinson JL, Ackerman MJ, Cypress M, Gray DA, Hofman N, Kanters JK, Kaufman ES, Platonov PG, Qi M, Towbin JA, Vincent GM, Lopes CM. Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome. Circulation. 2012; 125::19881996.
    [Google الباحث العلمي]
  26. Johnson JN, Ackerman MJ. Return to play? Athletes with congenital long QT syndrome. Br J Sports Med. 2013; 47::2833.
    [Google الباحث العلمي]
  27. Schwartz PJ. Management of long QT syndrome. Nat Clin Pract Cardiovasc Med. 2005; 2::346351.
    [Google الباحث العلمي]
  28. Chockalingam P, Crotti L, Girardengo G, Johnson JN, Harris KM, van der Heijden JF, Hauer RNW, Beckmann BM, Spazzolini C, Rordorf R, Rydberg A, Clur SAB, Paed FCP, Fischer M, van den Heuvel F, Kääb S, Blom NA, Ackerman MJ, Schwartz PJ, Wilde AAM. Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol. 2012; 2092::2099.
    [Google الباحث العلمي]
  29. Priori SG, Napolitano C, Schwartz PJ, Grillo M, Bloise R, Ronchetti E, Moncalvo C, Tulipani C, Veia A, Bottelli G, Nastoli J. Association of long QT syndrome loci and cardiac events among patients treated with beta- blockers. JAMA. 2004; 292::13411344.
    [Google الباحث العلمي]
  30. Ruan Y, Liu N, Bloise R, Napolitano C, Priori SG. Gating properties of SCN5A mutations and the response to mexiletine in long-QT syndrome type 3 patients. Circulation. 2007; 116::11371144.
    [Google الباحث العلمي]
  31. Moss AJ, Zareba W, Schwarz KQ, Rosero S, McNitt S, Robinson JL. Ranolazine shortens repolarization in patients with sustained inward sodium current due to type-3 long-QT syndrome. J Cardiovasc Electrophysiol. 2008; 19::12891293.
    [Google الباحث العلمي]
  32. Schwartz PJ, Spazzolini C, Priori SG, Crotti L, Vicentini A, Landolina M, Gasparini M, Wilde AAM, Knops RE, Denjoy I, Toivonen L, Mönnig G, Al-Fayyadh M, Jordaens L, Borggrefe M, Holmgren C, Brugada P, De Roy L, Hohnloser SH, Brink PA. Who are the long-QT syndrome patients who receive an implantable cardioverter defibrillator and what happens to them? Data from the European long-QT syndrome implantable cardioverter-defibrillator (LQTS ICD) Registry. Circulation. 2010; 122::12721282.
    [Google الباحث العلمي]
  33. Schwartz PJ. Cardiac sympathetic denervation to prevent life-threatening arrhythmias. Nat Rev Cardiol. 2014; 11::346353.
    [Google الباحث العلمي]
  34. Earle N, Yeo Han D, Pilbrow A, Crawford J, Smith W, Shelling AN, Cameron V, Love DR, Skinner JR. Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome. Heart Rhythm. 2014; 11::7682.
    [Google الباحث العلمي]
  35. Itzhaki I, Maizels L, Huber I, Zwi-Dantsis L, Caspi O, Winterstern A, Feldman O, Gepstein A, Arbel G, Hammerman H, Boulos M, Gepstein L. Modelling the long QT syndrome with induced pluripotent stem cells. Nature. 2011; 471::225229.
    [Google الباحث العلمي]
/content/journals/10.5339/gcsp.2015.26
Loading
/content/journals/10.5339/gcsp.2015.26
Loading

جارٍ تحميل البيانات والوسائط...

  • نوع المستند: Review Article
الموضوعات الرئيسية genotypegenotype association studies and Long QT syndrome
هذه الخانة مطلوبة
يُرجى إدخال عنوان بريد إلكتروني صالح
Approval was a Success
Invalid data
An Error Occurred
Approval was partially successful, following selected items could not be processed due to error