СИНДРОМ БРУГАДА У ПАЦИЕНТОВ ПСИХИАТРИЧЕСКОГО ПРОФИЛЯ С АНАТОМИЧЕСКИ ИЗМЕНЁННЫМ СЕРДЦЕМ
Аннотация
Рассматриваются современные представления о синдроме Бругада, его генетические основы, взаимосвязи со структурными заболеваниями сердца, в частности, с аритмогенной кардиомиопатией правого желудочка, и патологией центральной нервной системы.
Список литературы
1. Chen Q, Kirsch GE, Zhang D et al. Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation // Nature. 1998; 392: 293.
2. Bezzina C, Rook M, Wilde A. Cardiac sodium channel and inherited arrhythmia syndromes // Cardiovasc Res 2001; 49: 257-271.
3. Lupoglazoff JM, Cheav T, Baroudi G et al. Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block // Circ Res 2001; 89: 16-21.
4. Bezzina CR, Rook MB, Groenewegen WA et al. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system // Circ Res. 2003; 92: 159.
5. Shimizu N, Iwamoto M, Nakano Y et al. Long-term electrocardiographic follow-up from childhood of an adult patient with Brugada syndrome associated with sick sinus syndrome // Circ J. 2009; 73(3): 575-579.
6. Hayashi H, Sumiyoshi M, Yasuda M et al. Prevalence of the Brugada-Type Electrocardiogram and Incidence of Brugada Syndrome in Patients With Sick Sinus Syndrome // Circ J. 2009 Dec 18. [Epub ahead of print].
7. Darbar D, Kannankeril P, Donahue B et al. Cardiac Sodium Channel (SCN5A) Variants Associated with Atrial Fibrillation // Circulation. 2008; 117(15): 1927-1935.
8. Ahmad F, Li D, Karibe A, Gonzalez O et al. Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23 // Circulation. 1998; 98: 2791.
9. McNair WP, Ku L, Taylor MR et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia // Circulation. 2004; 110: 2163.
10. Kyndt F, Probst V, Potet F et al. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family // Circulation 2001; 104: 3081-3086.
11. Chen LQ, Santarelli V, Horn R, Kallen RG. A unique role for the S4 segment of domain 4 in the inactivation sodium channels // J Gen Physiol 1996; 108: 549-556.
12. Frigo G , Rampazzo A, Bauce B et al. Homozygous SCN5A mutation in Brugada syndrome with monomorphic ventricular tachycardia and structural heart abnormalities // Europace 2007; 9: 391-397.
13. Olson TM, Michels VV, Ballew JD et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation // JAMA 2005; 293: 447-454.
14. Samani K, Ai T, Towbin J et al. A nonsense SCN5A mutation associated with Brugada type ECG and intraventricular conduction defects // Pacing Clin Electrophysiol. 2009; 32(9): 1231-1236.
15. Shi R, Zhang Y, Yang C et al. The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death // Europace. 2008; 10(11): 1329-1335.
16. Yap Y G, Behr E R, Camm A J. Drug-induced Brugada syndrome // Europace Advance Access published May 29, 2009.
17. Papavassiliu T, Wolpert C, Fluchter S. Magnetic resonance imaging findings in patients with Brugada syndrome // Cardiovasc Electro-physiol. 2004; 15: 1133.
18. Takagi M, Aihara N, Kuribayashi S et al. Localized right ventricular morphological abnormalities detected by electron-beam computed tomography represent arrhythmogenic substrates in patients with the Brugada syndrome // Eur Heart J. 2001; 22: 1032.
19. Morimoto S, Uemura A, Hishida H. An Autopsy Case of Brugada Syndrome with Significant Lesions in the Sinus Node // J Cardiovasc Electrophysiol 2005; 16(3): 345347.
20. Antzelevitch C. Late potentials and the Brugada syndrome // J Am Coll Cardiol. 2002; 39: 1996.
21. Antzelevitch C. The Brugada syndrome: diagnostic criteria and cellular mechanisms // Eur Heart J. 2001; 22: 356.
22. Martini B & Nava A. Fifteen years after the first Italian description by Nava-Martini-Thiene and colleagues of a new syndrome (different from the Brugada syndrome?) in the Giornale Italiano di Cardiologia: do we really know everything on this entity? // Ital Heart J. 1988, 2003, 2004; 5: 53.
23. Tukkie R, Sogaard P, Vleugels J et al. Delay in right ventricular activation contributes to Brugada syndrome // Circulation. 2004; 109: 1272.
24. Probst V, Allouis M, Sacher F et al. Progressive cardiac conduction defect is the prevailing phenotype in carriers of a Brugada syndrome SCN5A mutation // J Cardiovasc Electrophysiol. 2006; 17: 270-275.
25. Keller DI, Barrane FZ, Gouas L et al. A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state // Can J Cardiol. 2005; 21: 925-931.
26. Antzelevitch C. Brugada syndrome: historical perspectives and observations // Eur Heart J. 2002; 23: 676.
27. Ayerza MR, de Zutter M, Goethals M et al. Heart transplantation as last resort against Brugada syndrome // J Cardiovasc Electrophysiol. 2002; 13: 943.
28. Coronel R, Casini S, Koopmann Т et al. Right Ventricular Fibrosis and Conduction Delay in a Patient With Clinical Signs of Brugada Syndrome. A Combined Electrophysiological, Genetic, Histopathologic, and Computational Study // Circulation 2005; 112: 2769-2777.
29. Stein M, van Veen AA, Carpentier F et al. Heterozygous SCN5A knockout mice demonstrate excessive fibrosis at old age, resulting in impaired conduction // Circulation. 2004; 110 (suppl III): III-152.
30. Vatta M, Dumaine R, Varghese G et al. Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome // Hum Mol Genet. 2002; 11: 337.
31. Corrado D, Nava A, Buja G et al. Familial cardiomyopathy underlies syndrome of right bundle branch block, ST segment elevation and sudden death // J Am Coll Cardiol 1996; 27: 443.
32. Ohe T. Idiopathic ventricular fibrillation of the Brugada type: an atypical form of arrhythmogenic right ventricular cardiomyopathy? // Intern Med. 1996; 35: 595.
33. Fontaine G. Familial cardiomyopathy associated with right bundle branch block, ST segment elevation and sudden death // J Am Coll Cardiol 1996; 28: 540.
34. Perez Riera AR, Antzelevitch C, Schapacknik E et al. Is there an overlap between Brugada syndrome and arrhythmogenic right ventricular cardiomyopathy/dysplasia? // J Electrocardiol. 2005; 38(3): 260-263.
35. Holst А, Calloe К, Jespersen Т et al. A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease // Case Report Med. 2009; 963645.
36. Riezebos R, de Man К, Patterson М, de Ruiter G. A bridge to Brugada // Europace 2007; 9(6): 398-400.
37. Imazio M, Ghisio A, Coda L et al. Brugada Syndrome: A Case Report of an Unusual Association with Vasospastic Angina and Coronary Myocardial Bridging // Pacing and Clinical Electrophysiology 2002; 25(4): 513-515.
38. Ohkubo K, Watanabe I, Okumura Y et al. Wolff-Parkinson-White Syndrome Concomitant with Asymptomatic Brugada Syndrome // PACE 2004; 27: 109-111.
39. Van den Berg M, de Boer R, van Tintelen J. Brugada Syndrome or Brugada Electrocardiogram? // J. Am. Coll. Cardiol. 2009; 53: 1569.
40. Verkerk AO, Van Ginneken AC, Van Veen TA, Tan HL. Effects of heart failure on brain-type Na+ channels in rabbit ventricular myocytes // Europace 2007; 9, 571-577.
41. Nashef L, Hindocha N, Makoff A. Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms // Epilepsia 2007; 48, 859-871.
42. Surges R, Thijs R, Tan Н, Sander J. Sudden Unexpected Death in Epilepsy: Risk Factors and Potential Pathomechanisms // Nat Rev Neurol. 2009 Aug 11. [Epub ahead of print].
43. Zijlmans M, Flanagan D, Gotman J. Heart rate changes and ECG abnormalities during epileptic seizures: prevalence and definition of an objective clinical sign // Epilepsia 2002; 43, 847-854.
44. Aurlien D, Leren Т, Tauboll Е, Leif G. New SCN5A mutation in a SUDEP victim with idiopathic epilepsy // European Journal of Epilepsy 2009; 18(2): 158-160.
45. Noebels J & Donner E. Genetic Trigger Uncovered for Sudden Death in Epilepsy // Sci Translational Med. 2009; 1: 2-6.
46. Pacia SV, Devinsky O, Luciano DJ, Vazquez B. The prolonged QT syndrome presenting as epilepsy: a report of two cases and literature review // Neurology 2004; 44, 1408-1410.
47. Johnson JN et al. Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy // Neurology 2009; 72, 224-231.
48. Wallace R et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B // Nat. Genet. 1998; 19: 366-370.
49. Claes L, Del-Favero J, Ceulemans B. et al. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy // Am J Hum Genet. 2001; 68: 1327-1332.
50. Wang J, Ou S , Wang Y et al. Analysis of four novel variants of Nav1.5/SCN5A cloned from the brain // Neuroscience research 2009; 64(4): 339-347.
51. Ling Wu. Functional characterization of SCN5A, the cardiac sodium channel gene associated with cardiac arrhythmias and sudden death. This dissertation has been approved for the Department of Biological, Geological, and Environmental Sciences and for the College of Graduate Studies of Cleveland State University (2008).
52. Donahue LM, Coates PW, Lee VH et al. The cardiac sodium channel mRNA is expressed in the developing and adult rat and human brain // Brain Res. 2000; 887: 335343.
53. Hartmann H, Colom L, Sutherland M, Noebels J. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain // Nature Neuroscience 1999; 2, 593-595.
54. Roberts E. GABAergic malfunction in the limbic system resulting from an aboriginal genetic defect in voltagegated Na+-channel SCN5A is proposed to give rise to susceptibility to schizophrenia // Adv Pharmacol. 2006; 54: 119-145.
55. Trudeau M, Dalton J, Day J et al. Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation // J Med Genet. 2006; 43(6): 527-530.
56. Kors E, Terwindt G, Vermeulen F et al. Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine // Ann Neurol 2001; 49: 753-760.
57. Splawski I et al. Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism // Cell. 2004; 119: 19-31.
58. Ferreira MA, O’Donovan MC, Meng YA et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder // Nat Genet. 2008; 40(9): 1056-1058.
59. Amin A.S, Asghari-Roodsari A., Tan HL. Cardiac sodium channelopathies // Pflugers Arch. 2010 July; 460(2): 223-237.
Рецензия
Для цитирования:
Лиманкина И.Н. СИНДРОМ БРУГАДА У ПАЦИЕНТОВ ПСИХИАТРИЧЕСКОГО ПРОФИЛЯ С АНАТОМИЧЕСКИ ИЗМЕНЁННЫМ СЕРДЦЕМ. Вестник аритмологии. 2010;62(62):52-58.
For citation:
Limankina I.N. BRUGADA SYNDROME IN PSYCHIATRIC PATIENTS WITH STRUCTURAL HEART DISEASE. Journal of Arrhythmology. 2010;62(62):52-58. (In Russ.)
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