Sudden Death in Sardinia

Epidemiology and Genetics of sudden cardiac death in Sardinia and correlation with channelopathies

Bibliography

  1. JERVELL A, LANGE-NIELSEN F. Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 1957;54(1):59-68.
  2. Hedley PL, Jorgensen P, Schlamowitz S et al. The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat 2009;30(11):1486-1511.
  3. WARD OC. A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN. J Ir Med Assoc 1964;54:103-106.
  4. Schwartz PJ, Stramba-Badiale M, Crotti L et al. Prevalence of the congenital long-QT syndrome. Circulation 2009;120(18):1761-1767.
  5. Priori SG, Napolitano C, Schwartz PJ et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004;292(11):1341-1344.
  6. Schwartz PJ, Priori SG, Spazzolini C et al. Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 2001;103(1):89-95.
  7. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome. An update. Circulation 1993;88(2):782-784.
  8. Goldenberg I, Moss AJ, Zareba W. QT interval: how to measure it and what is "normal". J Cardiovasc Electrophysiol 2006;17(3):333-336.
  9. Schwartz PJ, Crotti L. QTc Behavior During Exercise and Genetic Testing for the Long-QT Syndrome. Circulation 2011;124(20):2181-2184.
  10. Priori SG, Schwartz PJ, Napolitano C et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003;348(19):1866-1874.
  11. Goldenberg I, Moss AJ, Peterson DR et al. Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation 2008;117(17):2184-2191.
  12. Goldenberg I, Moss AJ, Bradley J et al. Long-QT syndrome after age 40. Circulation 2008;117(17):2192-2201.
  13. Spazzolini C, Mullally J, Moss AJ et al. Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. J Am Coll Cardiol 2009;54(9):832-837.
  14. Goldenberg I, Mathew J, Moss AJ et al. Corrected QT variability in serial electrocardiograms in long QT syndrome: the importance of the maximum corrected QT for risk stratification. J Am Coll Cardiol 2006;48(5):1047-1052.
  15. Locati EH, Zareba W, Moss AJ et al. Age- and sex-related differences in clinical manifestations in patients with congenital long-QT syndrome: findings from the International LQTS Registry. Circulation 1998;97(22):2237-2244.
  16. Zareba W, Moss AJ, Locati EH et al. Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol 2003;42(1):103-109.
  17. Jons C, Moss AJ, Lopes CM et al. Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome. J Cardiovasc Electrophysiol 2009;20(8):859-865.
  18. Moss AJ, Zareba W, Kaufman ES et al. Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 2002;105(7):794-799.
  19. Zareba W, Moss AJ, Schwartz PJ et al. 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(14):960-965.
  20. Goldenberg I, Moss AJ. Long QT syndrome. J Am Coll Cardiol 2008;51(24):2291-2300.
  21. Zipes DP, Camm AJ, Borggrefe M et al. ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: a report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (writing committee to develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death): developed in collaboration with the European Heart Rhythm Association and the Heart Rhythm Society. Circulation 2006;114(10):e385-e484.
  22. Schwartz PJ, Priori SG, Cerrone M et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation 2004;109(15):1826-1833.
  23. Schwartz PJ, Spazzolini C, Crotti L. All LQT3 patients need an ICD: true or false? Heart Rhythm 2009;6(1):113-120.
  24. Groh WJ, Silka MJ, Oliver RP, Halperin BD, McAnulty JH, Kron J. Use of implantable cardioverter-defibrillators in the congenital long QT syndrome. Am J Cardiol 1996;78(6):703-706.
  25. Etheridge SP, Sanatani S, Cohen MI, Albaro CA, Saarel EV, Bradley DJ. Long QT syndrome in children in the era of implantable defibrillators. J Am Coll Cardiol 2007;50(14):1335-1340.
  26. Goel AK, Berger S, Pelech A, Dhala A. Implantable cardioverter defibrillator therapy in children with long QT syndrome. Pediatr Cardiol 2004;25(4):370-378.
  27. Monnig G, Kobe J, Loher A et al. Implantable cardioverter-defibrillator therapy in patients with congenital long-QT syndrome: a long-term follow-up. Heart Rhythm 2005;2(5):497-504.
  28. Moss AJ, Schwartz PJ, Crampton RS et al. The long QT syndrome. Prospective longitudinal study of 328 families. Circulation 1991;84(3):1136-1144.
  29. Gussak I, Brugada P, Brugada J et al. Idiopathic short QT interval: a new clinical syndrome? Cardiology 2000;94(2):99-102.
  30. Giustetto C, Di MF, Wolpert C et al. Short QT syndrome: clinical findings and diagnostic-therapeutic implications. Eur Heart J 2006;27(20):2440-2447.
  31. Brugada R, Hong K, Dumaine R et al. Sudden death associated with short-QT syndrome linked to mutations in HERG. Circulation 2004;109(1):30-35.
  32. Bellocq C, van Ginneken AC, Bezzina CR et al. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 2004;109(20):2394-2397.
  33. Priori SG, Pandit SV, Rivolta I et al. A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 2005;96(7):800-807.
  34. Antzelevitch C, Pollevick GD, Cordeiro JM et al. Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical Entity Characterized by ST-Segment Elevation, Short QT Intervals, and Sudden Cardiac Death. Circulation 2007;115(4):442-449.
  35. Templin C, Ghadri JR, Rougier JSb et al. Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). European Heart Journal 2011;32(9):1077-1088.
  36. Gollob MH, Redpath CJ, Roberts JD. The short QT syndrome: proposed diagnostic criteria. J Am Coll Cardiol 2011;57(7):802-812.
  37. Giustetto C, Schimpf R, Mazzanti A et al. Long-Term Follow-Up of Patients With Short QT Syndrome. Journal of the American College of Cardiology 2011;58(6):587-595.
  38. Antzelevitch C, Brugada P, Borggrefe M et al. Brugada Syndrome: Report of the Second Consensus Conference: Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association. Circulation 2005;111(5):659-670.
  39. Napolitano,C.; Bloise,R.; Monteforte,N.et al. Sudden Cardiac Death and Genetic Ion Channelopathies: Long QT, Brugada, Short QT, Catecholaminergic Polymorphic Ventricular Tachycardia, and Idiopathic Ventricular Fibrillation. Circulation. 2012;125:2027-2034.
  40. Kapplinger JD, Tester DJ, Alders M et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm 2010;7(1):33-46.
  41. Priori SG, Napolitano C, Gasparini M et al. Natural History of Brugada Syndrome: Insights for Risk Stratification and Management. Circulation 2002;105(11):1342-1347.
  42. Brugada J, Brugada R, Antzelevitch C, Towbin J, Nademanee K, Brugada P. Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3. Circulation 2002;105(1):73-78.
  43. Brugada J, Brugada R, Brugada P. Determinants of sudden cardiac death in individuals with the electrocardiographic pattern of Brugada syndrome and no previous cardiac arrest. Circulation 2003;108(25):3092-3096.
  44. Eckardt L, Probst V, Smits JPP et al. Long-Term Prognosis of Individuals With Right Precordial ST-Segment-Elevation Brugada Syndrome. Circulation 2005;111(3):257-263.
  45. Giustetto C, Drago S, Demarchi PG et al. Risk stratification of the patients with Brugada type electrocardiogram: a community-based prospective study. Europace 2009;11(4):507-513.
  46. Probst V, Veltmann C, Eckardt L et al. Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry. Circulation 2010;121(5):635-643.
  47. Wilde A, Antzelevitch C, Borggrefe M et al. Proposed Diagnostic Criteria for the Brugada Syndrome: Consensus Report. Circulation 2002;106:2514-2519.
  48. Sarkozy A, Chierchia GB, Paparella G et al. Inferior and lateral electrocardiographic repolarization abnormalities in Brugada syndrome. Circ Arrhythm Electrophysiol 2009;2(2):154-161.
  49. Veltmann C, Schimpf R, Echternach C et al. A prospective study on spontaneous fluctuations between diagnostic and non-diagnostic ECGs in Brugada syndrome: implications for correct phenotyping and risk stratification. Eur Heart J 2006;27(21):2544-2552.
  50. Tatsumi H, Takagi M, Nakagawa E, Yamashita H, Yoshiyama M. Risk stratification in patients with Brugada syndrome: analysis of daily fluctuations in 12-lead electrocardiogram (ECG) and signal-averaged electrocardiogram (SAECG). J Cardiovasc Electrophysiol 2006;17(7):705-711.
  51. Sangwatanaroj S, Prechawat S, Sunsaneewitayakul B, Sitthisook S, Tosukhowong P, Tungsanga K. New electrocardiographic leads and the procainamide test for the detection of the Brugada sign in sudden unexplained death syndrome survivors and their relatives. Eur Heart J 2001;22(24):2290-2296.
  52. Sangwatanaroj S, Prechawat S, Sunsaneewitayakul B, Sitthisook S, Tosukhowong P, Tungsanga K. Right ventricular electrocardiographic leads for detection of Brugada syndrome in sudden unexplained death syndrome survivors and their relatives. Clin Cardiol 2001;24(12):776-781.
  53. Govindan M, Batchvarov VN, Raju H et al. Utility of high and standard right precordial leads during ajmaline testing for the diagnosis of Brugada syndrome. Heart 2010;96(23):1904-1908.
  54. Priori SG, Gasparini M, Napolitano C et al. Risk Stratification in Brugada Syndrome: Results of the PRELUDE (PRogrammed ELectrical stimUlation preDictive valuE) Registry. J Am Coll Cardiol 2012;59(1):37-45.
  55. Maury P, Hocini M, Haissaguerre M. Electrical storms in Brugada syndrome: review of pharmacologic and ablative therapeutic options. Indian Pacing Electrophysiol J 2005;5(1):25-34.
  56. Schweizer PA, Becker R, Katus HA, Thomas D. Successful acute and long-term management of electrical storm in Brugada syndrome using orciprenaline and quinine/quinidine. Clin Res Cardiol 2010;99(7):467
  57. Postema PG, Wolpert C, Amin AS et al. Drugs and Brugada syndrome patients: review of the literature, recommendations, and an up-to-date website (www.brugadadrugs.org). Heart Rhythm 2009;6(9):1335-1341.
  58. Hayashi M; Denjoy I; Extramiana F et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009;119:2426-2434.
  59. Priori SG, Napolitano C. Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. J Clin Invest 2005;115(8):2033-2038.
  60. Postma AV, Denjoy I, Hoorntje TM et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91(8):e21-e26.
  61. Jiang D, Xiao B, Yang D et al. RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR). Proc Natl Acad Sci U S A 2004;101(35):13062-13067.
  62. Liu N, Colombi B, Memmi M et al. Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. Circ Res 2006;99(3):292-298.
  63. Mohamed U, Napolitano C, Priori SG. Molecular and electrophysiological bases of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol 2007;18(7):791-797.
  64. van der Werf C, Kannankeril PJ, Sacher F et al. Flecainide Therapy Reduces Exercise-Induced Ventricular Arrhythmias in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia. J Am Coll Cardiol 2011;57:2244–54
  65. Wilde AA, Bhuiyan ZA, Crotti L et al. Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med 2008;358(19):2024-2029.
  66. Nademanee K, Veerakul G, Chandanamattha P et al. Prevention of ventricular fibrillation episodes in Brugada syndrome by catheter ablation over the anterior right ventricular outflow tract epicardium. Circulation 2011;123(12):1270-1279.
  67. Ficker DM, So EL, Shen WK et al. Population-based study of the incidence of sudden unexplained death in epilepsy. Neurology 1998;51(5):1270-1274.
  68. Mohanraj R, Norrie J, Stephen LJ, Kelly K, Hitiris N, Brodie MJ. Mortality in adults with newly diagnosed and chronic epilepsy: a retrospective comparative study. The Lancet Neurology 2006;5(6):481-487.
  69. Nashef L, Fish DR, Garner S, Sander JW, Shorvon SD. Sudden death in epilepsy: a study of incidence in a young cohort with epilepsy and learning difficulty. Epilepsia 1995;36(12):1187-1194.
  70. Leestma JE, Annegers JF, Brodie MJ et al. Sudden unexplained death in epilepsy: observations from a large clinical development program. Epilepsia 1997;38(1):47-55.
  71. Derby LE, Tennis P, Jick H. Sudden unexplained death among subjects with refractory epilepsy. Epilepsia 1996;37(10):931-935.
  72. Annegers JF, Coan SP, Hauser WA, Leestma J. Epilepsy, vagal nerve stimulation by the NCP system, all-cause mortality, and sudden, unexpected, unexplained death. Epilepsia 2000;41(5):549-553.
  73. Lip GY, Brodie MJ. Sudden death in epilepsy: an avoidable outcome? J R Soc Med 1992;85(10):609-611.
  74. Kloster R, Engelskjon T. Sudden unexpected death in epilepsy (SUDEP): a clinical perspective and a search for risk factors. J Neurol Neurosurg Psychiatry 1999;67(4):439-444.
  75. Shorvon S, Tomson T. Sudden unexpected death in epilepsy. Lancet 2011;378(9808):2028-2038.
  76. Velagapudi P, Turagam M, Laurence T, Kocheril A. Cardiac arrhythmias and sudden unexpected death in epilepsy (SUDEP). Pacing Clin Electrophysiol 2012;35(3):363-370.
  77. Hartmann HA, Colom LV, Sutherland ML, Noebels JL. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat Neurosci 1999;2(7):593-595.
  78. Ackerman MJ. Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies. Semin Pediatr Neurol 2005;12(1):52-58.
  79. Johnson JN, Hofman N, Haglund CM, Cascino GD, Wilde AA, Ackerman MJ. Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology 2009;72(3):224-231.
  80. Jarecki BW, Piekarz AD, Jackson JO, Cummins TR. Human voltage-gated sodium channel mutations that cause inherited neuronal and muscle channelopathies increase resurgent sodium currents. J Clin Invest 2010;120(1):369-378.
  81. Sanguinetti MC. HERG1 channelopathies. Pflugers Arch 2010;460(2):265-276.
  82. Burghaus L, Fink GR, Erdmann E, Muller-Ehmsen J. [Epileptic seizures: effects on cardiac function]. Dtsch Med Wochenschr 2011;136(7):315-319.
  83. Zamorano-Le+¦n JJ, Ya+¦ez R, Jaime G et al. KCNH2 Gene Mutation: A Potential Link Between Epilepsy and Long QT-2 Syndrome. J Neurogenet 2012;1-5.
  84. Johnson JN, Tester DJ, Bass NE, Ackerman MJ. Cardiac Channel Molecular Autopsy for Sudden Unexpected Death in Epilepsy. Journal of Child Neurology 2010;25(7):916-921.
  85. Lehnart SE, Mongillo M, Bellinger A et al. Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest 2008;118(6):2230-2245.
  86. Goldman AM, Glasscock E, Yoo J, Chen TT, Klassen TL, Noebels JL. Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. Sci Transl Med 2009;1(2):2ra6.
  87. Nagrani T, Siyamwala M, Vahid G, Bekheit S. Ryanodine calcium channel: a novel channelopathy for seizures. Neurologist 2011;17(2):91-94.
  88. Mulley JC, Scheffer IE, Petrou S, Berkovic SF. Channelopathies as a genetic cause of epilepsy. Curr Opin Neurol 2003;16(2):171-176.

Sardegna

REGIONE AUTONOMA DELLA SARDEGNA

NOTE! This site uses cookies and similar technologies.

Cookies help us to provide our services. By using these services, you agree to our use of cookies. Learn more

I understand

How does this site use cookies

A cookie is a small text that is sent to your browser from a web site visited. It allows the website to store information about your visit, such as your preferred language and other settings. This can facilitate your next visit and increase the usefulness of the site in your favor. Cookies play an important role. Without them, the use of the Web would be a much more frustrating.

Cookies are used for many purposes. We use them, for example, to store your language preferences, to help you register for our services and to protect your information.

Our privacy policy explains how we protect your privacy during the use of cookies and other information.

Back To Top