sechenovSechenov Medical JournalСеченовский вестник2218-73322658-3348Сеченовский Университетsechenov-794Research ArticleCARDIOLOGYКАРДИОЛОГИЯGenetically determined diseases associated with an increased risk of sudden cardiac death: etiology, diagnosis and treatmentГенетически детерминированные заболевания, ассоциированные с повышенным риском развития внезапной сердечной смерти: вопросы этиологии, диагностики и леченияЛещинскийС. П.LeshchinskyS. P.

Сергей Петрович Лещинский, лаборант-исследователь лаборатории электрофизиологических методов исследования в кардиологии Научно-исследовательского центра

125499, г. Москва, Кронштадтский бульвар, д. 43, корп. 1, кв. 88

8 (916) 487–01–35

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

leshchinsky@tochka.ruПервый МГМУ им. И.М. СеченоваРоссияI.M. Sechenov First MSMURussian Federation201430122014043440Copyright © Leshchinsky S.P., 20142014Лещинский С.П.Leshchinsky S.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.sechenovmedj.com/jour/article/view/794

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.

В настоящее время проблеме сердечно-сосудистых заболеваний уделяется большое внимание во всем мире. Среди них особое значение имеют сопряженные с высоким риском внезапной сердечной смерти. Данная группа заболеваний по статистике занимает одну из верхних строчек среди причин смертности в развитых странах. В предлагаемом обзоре отображены моменты этиологии, диагностики и лечения некоторых заболеваний, способных привести к внезапной смерти пациентов.

внезапная смертьнаследственностьжелудочковая тахикардияsudden deathheredityventricular tachycardiaReferencesИванов Г.Г., Лещинский С.П., Александрова М.Р. и др. Заболевания с высоким риском развития желудочковых тахиаритмий и внезапной сердечной смерти // Сборник трудов четырнадцатой научно-практичечкой конференции ≪Диагностика и лечение нарушений регуляции сердечно-сосудистой системы≫. М. 2012.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.Иванов Г.Г., Сметнев А.С., Сыркин А.Л. и др. Основные механизмы, принципы прогноза и профилактики внезапной сердечной смерти // Кардиология. 1998;12:64-73.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.Школьникова М.А., Харлап М.С., Ильдарова Р.А. Генетически детерминированные нарушения ритма сердца // Российский кардиологический журнал. 2011; 1(87):8-25.Shkolnikova M.A., Kharlap M.S., Ildarova R.A. Genetically determined cardiac arrhythmias // Rossij sky kardiologichesky zhurnal. 2011; 1(87):8-25.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.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.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.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.Cau C. The Brugada syndrome. A predicted sudden juvenile death // Minerva Med. 1999; Sep;90(9):359-364.Cau C. The Brugada syndrome. A predicted sudden juvenile death // Minerva Med. 1999; Sep;90(9):359-364.Wang D.W., Makita N., Kitabatake A. et al. Enhanced Na+ Channel Intermediate Inactivation in Brugada Syndrome // Circulation Research. 2000;87:e37.Wang D.W., Makita N., Kitabatake A. et al. Enhanced Na+ Channel Intermediate Inactivation in Brugada Syndrome // Circulation Research. 2000;87:e37.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.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.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.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.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.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.Mokaddem A., Chattaoui R., Sdiri W. Et al. Brugada syndrome // Tunis Med. 2001;79(11):569-573.Mokaddem A., Chattaoui R., Sdiri W. Et al. Brugada syndrome // Tunis Med. 2001;79(11):569-573.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.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.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.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.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.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.Wichter T., Matheja P., Eckardt L. Et al. Cardiac autonomic dysfunction in Brugada syndrome // Circulation. 2002; Feb 12;105(6):702-706.Wichter T., Matheja P., Eckardt L. Et al. Cardiac autonomic dysfunction in Brugada syndrome // Circulation. 2002; Feb 12;105(6):702-706.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.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.Futterman L.G., Lemberg L. Brugada. Am J Crit Care 2001 (5):360-364.Futterman L.G., Lemberg L. Brugada. Am J Crit Care 2001 (5):360-364.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.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.Национальные рекомендации по определению риска и профилактике внезапной сердечной смерти. Рабочая группа по подготовке текста рекомендаций Шляхто Е.В., Арутюнов Г.П., Беленков Ю.Н. М. 2012. 167 с.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.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.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.Matsuo K., Yano K. Brugada syndrome // Nippon Rinsho. 2002;60(7):1408-1414.Matsuo K., Yano K. Brugada syndrome // Nippon Rinsho. 2002;60(7):1408-1414.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.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.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.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.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.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.Romano C., Gemme G., Pongilione R. Aritmie cardiache rare dell eta pediatrica // Pediatrica. 1963;45:658-683.Romano C., Gemme G., Pongilione R. Aritmie cardiache rare dell eta pediatrica // Pediatrica. 1963;45:658-683.Ward O.C. New familiar cardiac syndrome in children // J. Irish. Med. Assoc. 1964; 54:103-106.Ward O.C. New familiar cardiac syndrome in children // J. Irish. Med. Assoc. 1964; 54:103-106.Гроер К. Кавалларо Д. Сердечно-легочная реанимация. Карманный справочник / Пер. с англ. М. ≪Практика≫. 1996. 128 c.Groer K., Cavalarro D. Cardiopulmonary resuscitation. Pocket Guide / Trans. from English. M. ≪Praktika≫. 1996. 128 p.Вейн А.М., Шварков С.Б., Гиоргобиани Р.Р. и др. Клинико-физиологическая характеристика синкопальных состояний при синдроме удлиненного интервала QT (синдром Романо-Уорда) // Журнал невропатологии и психиатрии им. С.С. Корсакова. 1991; 91(8):3-6.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.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.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.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.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.Geelen J. Doevedans P., Jonbloed R. et al. Molecular genetics of inherited long QT syndromes // Eur. Heart J. 1998; 19:1427-1433.Geelen J. Doevedans P., Jonbloed R. et al. Molecular genetics of inherited long QT syndromes // Eur. Heart J. 1998; 19:1427-1433.Georgievic MilicL. Molecular genetics in the hereditary form of long QT syndrome // Med. Pregl. 2000: 53(1-2):51-54.Georgievic MilicL. Molecular genetics in the hereditary form of long QT syndrome // Med. Pregl. 2000: 53(1-2):51-54.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.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.Schwartz P. J. Idiopatic long QT syndrome: progress and questions // Amer. Heart J. 1985; 111:399-411.Schwartz P. J. Idiopatic long QT syndrome: progress and questions // Amer. Heart J. 1985; 111:399-411.Шилов А.М., Мельник М.В., Санодзе И.Д. и др. Врожденный синдром удлиненного интервала QT // Российские медицинские вести. 2000; 5(3):60-63.Shilov A.M., Melnik M.V., Sanodze I.D. et al. Congenital long QT syndrome // Rossij skie medicinskie vesti. 2000; 5(3):60-63.Verskin S.? Fish R. Prevention of ventricular arrhytmias in the congenital long QT syndrome // Curr. Cardiol. Rep. 2000 2(6): 492-497.Verskin S.? Fish R. Prevention of ventricular arrhytmias in the congenital long QT syndrome // Curr. Cardiol. Rep. 2000 2(6): 492-497.Медведева В.Н., Конович Ю.К., Медведев В.В и др. Наследственный феномен и синдром удлиненного интервала QT // Кардиология. 1998; 38(1):89-90.Medvedeva V.N., Konovich Yu.K., Medvedev V.V. et al. Hereditary syndrome phenomenon and extended interval QT // Kardiologiya. 1998; 38(1):89-90.Кардиология в таблицах и схемах. Под ред. М Фрида и С. Грайнс / Пер. с англ. М. ≪Практика≫. 1996. 736 с.Cardiology in tables and diagrams. Ed. by M. Fried and S. Grayns / Trans. From English. M. ≪Praktika≫. 1996. 736 p.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.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.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.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.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.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.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.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.Gussak I., Brugada P., Brugada J. et al. Idiopathic short QT interval: A new clinical syndrome? // Cardiology. 2000; 94: 99–102.Gussak I., Brugada P., Brugada J. et al. Idiopathic short QT interval: A new clinical syndrome? // Cardiology. 2000; 94: 99–102.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.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.Bellocq C., Van Ginneken A., Bezzina C. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome // Circulation. 2004; 109: 2394–2397.Bellocq C., Van Ginneken A., Bezzina C. Mutation in the KCNQ1 gene leading to the short QT-interval syndrome // Circulation. 2004; 109: 2394–2397.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.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.Gaita F., Giustetto C., Bianchi F. et al. Short QT syndrome. A familial cause of sudden death // Ibid. 2003; 108: 965–970.Gaita F., Giustetto C., Bianchi F. et al. Short QT syndrome. A familial cause of sudden death // Ibid. 2003; 108: 965–970.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.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.Цфасман А.З. Внезапная сердечная смерть (и ее профессиональные аспекты). М. ≪МЦНМО≫. 2003. 302 с.Tsfasman A.Z. Sudden cardiac death (and its professional aspects). M. ≪MTsNMO≫. 2003. 302 p.Maron B.J. Hypertrophic cardiomiopathy. A systematic review // JAMA. 2002; 287: 1308-1320.Maron B.J. Hypertrophic cardiomiopathy. A systematic review // JAMA. 2002; 287: 1308-1320.

The authors declare that there are no conflicts of interest present.