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Genetically determined diseases associated with an increased risk of sudden cardiac death: etiology, diagnosis and treatment

Abstract

At the moment the problem of cardiovascular disease received much attention worldwide. Among other diseases of the cardiovascular system these occupy a special place, associated with a high risk of sudden cardiac death. This group of diseases (according to the statistics) occupies one of the top lines in leading causes of death in developed countries. This review displayes moments of etiology, diagnosis and treatment of certain diseases that can lead to sudden death in patients.

About the Author

S. P. Leshchinsky
I.M. Sechenov First MSMU
Russian Federation

Sergey Petrovich Leshchinsky, assistant researcher of the Laboratory of electrophysiological methods of research in cardiology of the Research Centre

88/1–43 Kronshtadtsky blvd., Moscow, 125499

8 (916) 487–01–35



References

1. Ivanov G.G., Leshchinsky S.P., Aleksandrova M.R. et al. Diseases with a high risk of ventricular tachyarrhythmias and sudden cardiac death. Proceedings of the Fourteenth Scientifi c-practical Conference ≪Diagnosis and treatment of disorders of the regulation of the cardiovascular system ≫. M. 2012.

2. Ivanov G.G., Smetnev A.S., Syrkin A.L. et al. Basic mechanisms, principles of prediction and prevention of sudden cardiac death // Kardiologiya. 1998;12:64-73.

3. Shkolnikova M.A., Kharlap M.S., Ildarova R.A. Genetically determined cardiac arrhythmias // Rossij sky kardiologichesky zhurnal. 2011; 1(87):8-25.

4. Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome // J. Am. Coll. Cardiol. 1992;20:1391-1396.

5. Shimizu W., Aiba T., Kurita T., Kamakura S. Paradoxic abbreviation of repolarization in epicardium of the right ventricular outfl ow tract during augmentation of Brugada-type ST segment elevation // J. Cardiovasc. Electrophysiol. 2001; Dec;12(12):1418-1421.

6. Cau C. The Brugada syndrome. A predicted sudden juvenile death // Minerva Med. 1999; Sep;90(9):359-364.

7. Wang D.W., Makita N., Kitabatake A. et al. Enhanced Na+ Channel Intermediate Inactivation in Brugada Syndrome // Circulation Research. 2000;87:e37.

8. Priori S.G., Aliot E., Blomstrom-Lundqvist C. et al. Task Force on Sudden Cardiac Death of the European Society of Cardiology // European Heart J. 2001. 22. P. 1374–1450.

9. Paydak H., Telfer E.A., Kehoe R.F. et al. Brugada syndrome: an unusual cause of convulsive syncope // Arch. Intern. Med. 2002; Jun 24;162(12):1416-1419.

10. Teo W.S., Kam R., Tan R.S. et al. The Brugada syndrome in a Chinese population // Int. J. Cardiol. 1998; Aug;65(3):281-286.

11. Mokaddem A., Chattaoui R., Sdiri W. Et al. Brugada syndrome // Tunis Med. 2001;79(11):569-573.

12. Itoh H., Shimizu M., Ino H. et al. Arrhythmias in patients with Brugada-type electrocardiographic findings // Jpn. Circ. J. 2001; Jun;65(6):483-486.

13. Eckardt L., Kirchhof P., Loh P. et al. Brugada syndrome and supraventricular tachyarrhythmias: a novel association? // J. Cardiovasc. Electrophysiol. 2001; Jun;12(6):680-685.

14. Suzuki H., Torigoe K., Numata O., Yazaki S. Infant case with a malignant form of Brugada syndrome // J. Cardiovasc. Electrophysiol. 2000;11(11):1277-1280.

15. Wichter T., Matheja P., Eckardt L. Et al. Cardiac autonomic dysfunction in Brugada syndrome // Circulation. 2002; Feb 12;105(6):702-706.

16. Gonzalez Rebollo J.M., Hernandez Madrid A., Garcia A. et al. Recurrent ventricular fi brillation during a febrile illness in a patient with the Brugada syndrome // Rev. Esp. Cardiol. 2000 ;53(5):755-757.

17. Futterman L.G., Lemberg L. Brugada. Am J Crit Care 2001 (5):360-364.

18. Shimada M., Miyazaki T., Miyoshi S. et al. Sustained monomorphic ventricular tachycardia in a patient with Brugada syndrome // Jpn. Circ. J. 1996;60(6):364-370.

19. National guidelines on the defi nition of risk and prevention of sudden cardiac death. The Working Group on drafting the recommendations (Shlyakhto E.V., Arutyunov G.P., Belenkov Yu.N. M. 2012. 167 p.

20. Brugada J., Brugada R., Brugada P. Right bundle-branch block and ST-segment elevation in leads V1 through V3: a marker for sudden death in patients without demonstrable structural heart disease // Circulation. 1998; Feb 10;97(5):457-460.

21. Matsuo K., Yano K. Brugada syndrome // Nippon Rinsho. 2002;60(7):1408-1414.

22. Kalla H., Yan G.X., Marinchak R. Ventricular fi brillation in a patient with prominent J (Osborn) waves and ST segment elevation in the inferior electrocardiographic leads: a Brugada syndrome variant? // J. Cardiovasc. Electrophysiol. 2000;11(1):95-98.

23. Chalvidan T., Deharo J.C., Dieuzaide P. et al. Near fatal electrical storm in a patient equipped with an implantable cardioverter defi brillator for Brugada syndrome // Pacing Clin. Electrophysiol. 2000;23(3):410-412.

24. Jervell A., Lange-Nielsen F. Congenital deafmutism, functional heart disease with prolongation of the QT interval and sudden death // Amer. Heart J. 1957;54:59-68.

25. Romano C., Gemme G., Pongilione R. Aritmie cardiache rare dell eta pediatrica // Pediatrica. 1963;45:658-683.

26. Ward O.C. New familiar cardiac syndrome in children // J. Irish. Med. Assoc. 1964; 54:103-106.

27. Groer K., Cavalarro D. Cardiopulmonary resuscitation. Pocket Guide / Trans. from English. M. ≪Praktika≫. 1996. 128 p.

28. Vein A.M., Shvarkov S.B., Giorgobiani R.R. et al. Clinical and physiological characteristics of the syndrome of syncope extended interval QT (Romano-Ward syndrome) // Zhurnal nevropatologii i psikhiatrii im. S.S. Korsakova. 1991; 91(8):3-6.

29. Brugada J., Brugada R, Brugada P. Pharmacological and device approach to therapy of inherited cardiac diseases associated with cardiac arrhytmias and sudden death // J. Electrocardiol. 2000; 33 Suppl: 41-47.

30. Ficker E., Dennis A.T., Obejero-Paz C.A. et al. Retentiun in endoplasmatic reticulum as mechanism of dominantnegative current suppression in human long QT syndrome // J. Mol. Cell. Cardiol. 2000; 32(12):2327-2337.

31. Geelen J. Doevedans P., Jonbloed R. et al. Molecular genetics of inherited long QT syndromes // Eur. Heart J. 1998; 19:1427-1433.

32. Georgievic MilicL. Molecular genetics in the hereditary form of long QT syndrome // Med. Pregl. 2000: 53(1-2):51-54.

33. January C.T., Gong Q., Zhou Z. Long QT syndromes: cellular basis and arrhythmia mechanism in LQT2 // J. Cardiovasc. Electrophysiol. 2000; 11(12):1413-1418.

34. Schwartz P. J. Idiopatic long QT syndrome: progress and questions // Amer. Heart J. 1985; 111:399-411.

35. Shilov A.M., Melnik M.V., Sanodze I.D. et al. Congenital long QT syndrome // Rossij skie medicinskie vesti. 2000; 5(3):60-63.

36. Verskin S.? Fish R. Prevention of ventricular arrhytmias in the congenital long QT syndrome // Curr. Cardiol. Rep. 2000 2(6): 492-497.

37. Medvedeva V.N., Konovich Yu.K., Medvedev V.V. et al. Hereditary syndrome phenomenon and extended interval QT // Kardiologiya. 1998; 38(1):89-90.

38. Cardiology in tables and diagrams. Ed. by M. Fried and S. Grayns / Trans. From English. M. ≪Praktika≫. 1996. 736 p.

39. Zipes D.P., Jalife J. Cardiac electrophysiology. From cell to bedside. Elsevier. Fifth edition. 2009. Ventricular arrhythmias: mechanisms, features, and, management. pp. 675-699, 723-779.

40. Fontaine G., Guiraudon G., Frank R. et al. Stimulation studies and epicardial mapping in VT: Study of mechanisms and selection for surgery // Reentrant Arrhythmias / Ed. H. E. Kulbertus. Lancaster, PA: MTP Publishers. 1977. P. 334–350.

41. Maron B. J., Towbin J. A., Thiene G. et al. Contemporary Definitions and Classification of the Cardiomyopathies: An American Heart Association Scientifi c Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention // Circulation. 8722; 2006; 113: 1807-1816.

42. Algra A., Tij ssen J. G. P., Roelandt J. R. T. C. et al. QT interval variables from 24 hour electrocardiography and the two year risk of sudden death // Brit. Heart J. 1993; 70:43–48.

43. Gussak I., Brugada P., Brugada J. et al. Idiopathic short QT interval: A new clinical syndrome? // Cardiology. 2000; 94: 99–102.

44. Brugada P., Hong K., Dumaine R. et al. Sudden death associated with short QT syndrome linked to mutations in HERG // Ibid. 2004; 109: 30–35.

45. Bellocq C., Van Ginneken A., Bezzina C. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome // Circulation. 2004; 109: 2394–2397.

46. Priori S. G., Pandit S. V., Rivolta I. et al. A novel form of short QT syndrome (SQTS3) is caused by a mutation in the KCNJ2 gene // Circ. Res. 2005; 96: 800–807.

47. Gaita F., Giustetto C., Bianchi F. et al. Short QT syndrome. A familial cause of sudden death // Ibid. 2003; 108: 965–970.

48. Schimpf R., Wolpert C., Bianchi F. et al. Congenital short QT syndrome and implantable cardioverter defibrillator. Inherent risk for inappropriate shock delivery // J. Cardiovasc. Electrophysiol. 2003; 14:1273–1277.

49. Tsfasman A.Z. Sudden cardiac death (and its professional aspects). M. ≪MTsNMO≫. 2003. 302 p.

50. Maron B.J. Hypertrophic cardiomiopathy. A systematic review // JAMA. 2002; 287: 1308-1320.


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