perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2018-63-2-7-15perinatology-638Research ArticleПЕРЕДОВАЯEDITORIALПроблемы современной диагностики и лечения дилатационной кардиомиопатии у детейProblems of modern diagnostics and treatment of dilated cardiomyopathy in childrenЛеонтьеваИ. В.LeontyevaI. V.

д.м.н., проф., главный научный сотрудник отдела детской кардиологии и аритмологии

ОСП «Научно-исследовательский клинический институт педиатрии имени академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава Российской Федерации, МоскваРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, MoscowRussian Federation201827042018632715Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20182018Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/638

Представлены данные об  этиологии дилатационной кардиомиопатии у  детей (постмиокардитическая, метаболическая, ассоциированная с  нервно-мышечной патологией, идиопатическая). Освещены генетические аспекты заболевания, описан широкий спектр мутаций в  генах, кодирующих белки различных структур кардиомиоцита (саркомерного комплекса, цитоскелета, Z-дисков, митохондрий), различные варианты наследования. Подчеркнута необходимость ранней диагностики метаболических кардиомиопатий. Представлены критерии неблагоприятного прогноза. Освещены современные подходы к медикаментозному и хирургическому лечению дилатационной кардиомиопатии.

 

Data on the etiology of dilated cardiomyopathy in children (post myocarditis, metabolic, associated with neuromuscular pathology, idiopathic) are presented. Genetic aspects of the disease are covered, a wide spectrum of mutationsin genes encoding proteins of various structures of the cardiomyocyte (sarcomeric complex, cytoskeleton, Z-disks, mitochondria), different variants of inheritance are described. The need for early diagnosis of metabolic cardiomyopathiesis underlined. Criteria for unfavorable prognosis are presented. Modern approaches to medical and surgical treatment of dilated cardiomyopathy are covered.

 

детидилатационная кардиомиопатияэтиологиягенетические данныедиагностикапрогнозлечениеchildrendilated cardiomyopathyetiologygenetic datadiagnosisprognosistreatmentReferencesMaron B.J., Towbin J.A., Thiene G., Antzelevitch C., Corrado D., Arnett D. et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific 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 Epidemiologyand Prevention. Circulation 2006; 113: 1807–1816. DOI 10.1161/ CIRCULATIONAHA.106.174287Maron B.J., Towbin J.A., Thiene G., Antzelevitch C., Corrado D., Arnett D. et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific 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 Epidemiologyand Prevention. Circulation 2006; 113: 1807–1816. DOI 10.1161/ CIRCULATIONAHA.106.174287Lipshultz S.E., Cochran T.R., Briston D.A., Brown S.R., Sambatakos P.J., Miller T.L. et al. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Future Cardiol 2013; 9: 817–848. DOI: 10.2217/fca.13.66Lipshultz S.E., Cochran T.R., Briston D.A., Brown S.R., Sambatakos P.J., Miller T.L. et al. Pediatric cardiomyopathies: causes, epidemiology, clinical course, preventive strategies and therapies. Future Cardiol 2013; 9: 817–848. DOI: 10.2217/fca.13.66Wilkinson J., Landy D., Colan S, Towbin J., Sleeper L.A., Orav E.J. et al. The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years. Heart Fail Clin 2010; 6(4): 401–413. DOI: 10.1016/j.hfc.2010.05.002Wilkinson J., Landy D., Colan S, Towbin J., Sleeper L.A., Orav E.J. et al. The Pediatric Cardiomyopathy Registry and Heart Failure: Key Results from the First 15 Years. Heart Fail Clin 2010; 6(4): 401–413. DOI: 10.1016/j.hfc.2010.05.002Schultz M., Hilliard A.A., Cooper L.D., Rihals C. Diagnosis and Treatment of Viral Myocarditis Mayo Clin Proc 2009; 84(11): 1001–1009. DOI: 10.1016/S0025-6196(11)60670-8Schultz M., Hilliard A.A., Cooper L.D., Rihals C. Diagnosis and Treatment of Viral Myocarditis Mayo Clin Proc 2009; 84(11): 1001–1009. DOI: 10.1016/S0025-6196(11)60670-8Caforio A.L., Vinci A., Iliceto S. Anti-heart autoantibodies in familial dilated cardiomyopathy. Autoimmunity 2008; 41(6): 462–469. DOI: 10.1080/08916930802031546Caforio A.L., Vinci A., Iliceto S. Anti-heart autoantibodies in familial dilated cardiomyopathy. Autoimmunity 2008; 41(6): 462–469. DOI: 10.1080/08916930802031546Kindel S.J., Miller E.M., Gupta R., Cripe L.H., Hinton R.B., Spicer R.L. et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012; 18: 396– 403. DOI: 10.1016/j.cardfail.2012.01.017Kindel S.J., Miller E.M., Gupta R., Cripe L.H., Hinton R.B., Spicer R.L. et al. Pediatric cardiomyopathy: importance of genetic and metabolic evaluation. J Card Fail 2012; 18: 396– 403. DOI: 10.1016/j.cardfail.2012.01.017Byers S., Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 26; 6(11): 1149–1155. DOI: 10.1080/08916930802031546Byers S., Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 26; 6(11): 1149–1155. DOI: 10.1080/08916930802031546Леонтьева И.В., Николаева Е.А. Митохондриальные кардиомиопатии. Рос вестн перинатол и педиатр 2016; 61(3): 22–30. DOI: 10.21508/1027-4065-2016-61-3-22-30Leont’eva I.V., Nikolaeva E.А. Mitochondrial cardiomyopathies. Rossijskij vestnik perinatologii i pediatrii 2016; 61(3): 22–30. DOI: http://dx.doi.org/10.21508/1027-4065-2016-61-3-22-30 (in Russ)Steward C.G., Newbury-Ecob R.A., Hastings R., Steward C.G., Newbury-Ecob R.A., Hastings R. et al. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 2010; 30: 970–976. DOI: 10.1002/pd.2599Steward C.G., Newbury-Ecob R.A., Hastings R., Steward C.G., Newbury-Ecob R.A., Hastings R. et al. Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth. Prenat Diagn 2010; 30: 970–976. DOI: 10.1002/pd.2599Леонтьева И.В., Николаева Е.А. Кардиомиопатии при врожденных нарушениях метаболизма у детей. Рос вестн перинатол и педиатр 2016; 61(2): 17–27. DOI: http: 10.21508/1027-4065-2016-61-2-17-27Leont’eva I.V., Nikolaeva E.А. Mitochondrial cardiomyopathies. Rossijskij vestnik perinatologii i pediatrii 2016; 61(2): 17–27. DOI: 10.21508/1027-4065-2016-61-2-17-27 (in Russ)Wicks E.C., Elliott P.M. Genetics and metabolic cardiomyopathies. Herz 2012; 37: 598–610. DOI: 10.1007/s00059-012-3659-0Wicks E.C., Elliott P.M. Genetics and metabolic cardiomyopathies. Herz 2012; 37: 598–610. DOI: 10.1007/s00059-012-3659-0Diegoli M., Grasso M., Favalli V., Serio A., Gambarin F., Klersy C. et al. Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 2011; 58: 925–34. DOI: 10.1016/j. jacc.2011.01.072Diegoli M., Grasso M., Favalli V., Serio A., Gambarin F., Klersy C. et al. Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol 2011; 58: 925–34. DOI: 10.1016/j. jacc.2011.01.072Hershberger R., Siegfried M. Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. JACC 2011; 57(16): 1641–1649. DOI: 10.1016/j.jacc.2011.01.015Hershberger R., Siegfried M. Update 2011: Clinical and Genetic Issues in Familial Dilated Cardiomyopathy. JACC 2011; 57(16): 1641–1649. DOI: 10.1016/j.jacc.2011.01.015Baars H.F. van der Smagt J.J., Doevendans P.A. Clinical Car-diogenetics. London: Springer, 2011. DOI: 10.1007/978-1-84996-471-5_4.Baars H.F. van der Smagt J.J., Doevendans P.A. Clinical Car-diogenetics. London: Springer, 2011. DOI: 10.1007/978-1-84996-471-5_4.Arbustini E., Narula N., Tavazzi L., Serio A., Grasso M., Fa-valli V. et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014; 64(3): 304–318. DOI: 10.1016/j.jacc.2014.05.027Arbustini E., Narula N., Tavazzi L., Serio A., Grasso M., Fa-valli V. et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014; 64(3): 304–318. DOI: 10.1016/j.jacc.2014.05.027Alexander P.M., Daubeney P.E., Nugent A.W., Lee K.J.,Turner C., Colan S.D. et al. Long-term outcomes of dilated cardiomyopathy diagnosed during childhood: results from a national population-based study of childhood cardiomyopathy. Circulation 2013; 128: 2039–2046. DOI: 10.1161/ CIRCULATIONAHA.113.002767Alexander P.M., Daubeney P.E., Nugent A.W., Lee K.J.,Turner C., Colan S.D. et al. Long-term outcomes of dilated cardiomyopathy diagnosed during childhood: results from a national population-based study of childhood cardiomyopathy. Circulation 2013; 128: 2039–2046. DOI: 10.1161/ CIRCULATIONAHA.113.002767Alvarez J.A., Orav E.J, Wilkinson J.D., Fleming L.E.,Lee David J., Sleeper L.A. Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation 2011; 124(7): 814–823. DOI: 10.1161 / CIRCULATIONAHA.110.973826Alvarez J.A., Orav E.J, Wilkinson J.D., Fleming L.E.,Lee David J., Sleeper L.A. Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation 2011; 124(7): 814–823. DOI: 10.1161 / CIRCULATIONAHA.110.973826Latus H., Gummel K., Klinge K., Moysich A., Khalil M., Mazhari N. et al. Focal myocardial fibrosis assessed by late gadolinium enhancement cardiovascular magnetic resonance in children and adolescents with dilated cardiomyopathy. J Cardiovasc Magn Reson 2015; 17: 34. DOI: 10.1186/ s12968-015-0142-0Latus H., Gummel K., Klinge K., Moysich A., Khalil M., Mazhari N. et al. Focal myocardial fibrosis assessed by late gadolinium enhancement cardiovascular magnetic resonance in children and adolescents with dilated cardiomyopathy. J Cardiovasc Magn Reson 2015; 17: 34. DOI: 10.1186/ s12968-015-0142-0Baba Y., Kubo T., Yamanaka S., Hirota T., Tanioka K., Ya-masaki N. et al. Clinical Significance of High-Sensitivity Cardiac Troponin T in Patients With Dilated Cardiomyopathy. Int Heart J 2015; 56(3): 309–313. DOI: 10.1536/ihj.14-335Baba Y., Kubo T., Yamanaka S., Hirota T., Tanioka K., Ya-masaki N. et al. Clinical Significance of High-Sensitivity Cardiac Troponin T in Patients With Dilated Cardiomyopathy. Int Heart J 2015; 56(3): 309–313. DOI: 10.1536/ihj.14-335Auerbach S.R., Richmond M.E., Lamour J.M., Blume E.D., Addonizio L.J., Shaddy R.E. et al. BNP levels predict outcome in pediatric heart failure patients post hoc analysis of the pediatric carvedilol trial. Circ Heart Fail 2010; 3(5): 606–611. DOI: 10.1161/CIRCHEARTFAILURE.109.906875Auerbach S.R., Richmond M.E., Lamour J.M., Blume E.D., Addonizio L.J., Shaddy R.E. et al. BNP levels predict outcome in pediatric heart failure patients post hoc analysis of the pediatric carvedilol trial. Circ Heart Fail 2010; 3(5): 606–611. DOI: 10.1161/CIRCHEARTFAILURE.109.906875Halliday B.P., Cleland J.G., Goldberger J.J., Prasad S.K. Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future. Circulation 2017; 136(2): 215–231. DOI: 10.1161/CIRCULATIONAHA.116.027Halliday B.P., Cleland J.G., Goldberger J.J., Prasad S.K. Personalizing Risk Stratification for Sudden Death in Dilated Cardiomyopathy: The Past, Present, and Future. Circulation 2017; 136(2): 215–231. DOI: 10.1161/CIRCULATIONAHA.116.027Kirk R., Dipchand A.I., Rosenthal D.N., Addonizio L., Burch M., Chrisant M., Dubin A. The International Society for Heart and Lung Transplantation Guidelines for the management of pediatric heart failure: Executive summary. J Heart Lung Transplant 2014; 33(9): 888–909. DOI: 10.1016/j. healun.2014.06.002Kirk R., Dipchand A.I., Rosenthal D.N., Addonizio L., Burch M., Chrisant M., Dubin A. The International Society for Heart and Lung Transplantation Guidelines for the management of pediatric heart failure: Executive summary. J Heart Lung Transplant 2014; 33(9): 888–909. DOI: 10.1016/j. healun.2014.06.002Kantor P.F., Lougheed J., Dancea A., McGillion M., Bars-bos N., Chan C. et al. Presentation, Diagnosis, and Medical Management of Heart Failure in Children: Canadian Cardiovascular Society Guidelines Canadian Journal of Cardiology 2013;29: 1535–1555. Canad J Cardiol 2013; 29(12): 1535– 1552. DOI: 10.1016/j.cjca.2013.08.008Kantor P.F., Lougheed J., Dancea A., McGillion M., Bars-bos N., Chan C. et al. Presentation, Diagnosis, and Medical Management of Heart Failure in Children: Canadian Cardiovascular Society Guidelines Canadian Journal of Cardiology 2013;29: 1535–1555. Canad J Cardiol 2013; 29(12): 1535– 1552. DOI: 10.1016/j.cjca.2013.08.008Shaddy R.E., Boucek M.M., Hsu D.T., Boucek R.J., Mahony L., RossR.D. et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA 2007; 298: 1171. DOI: 10.1001/jama.298.10.1171Shaddy R.E., Boucek M.M., Hsu D.T., Boucek R.J., Mahony L., RossR.D. et al. Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA 2007; 298: 1171. DOI: 10.1001/jama.298.10.1171Azeka E., Franchini Ramires J.A., Valler C., Alcides Bocchi E. Delisting of infants and children from the heart transplantation waiting list after carvedilol treatment. J Am Coll Cardiol 2002; 40(11): 2034–2038.Azeka E., Franchini Ramires J.A., Valler C., Alcides Bocchi E. Delisting of infants and children from the heart transplantation waiting list after carvedilol treatment. J Am Coll Cardiol 2002; 40(11): 2034–2038.Reddy S., Fung A., Manlhiot C., Tierney E.S., Chung W.K., Blume E., Kaufman B.D. et al. Adrenergic receptor geno-type influences heart failure severity and β-blocker response in children with dilated cardiomyopathy. Pediatr Res 2015; 77(2): 363–369. DOI: 10.1038Reddy S., Fung A., Manlhiot C., Tierney E.S., Chung W.K., Blume E., Kaufman B.D. et al. Adrenergic receptor geno-type influences heart failure severity and β-blocker response in children with dilated cardiomyopathy. Pediatr Res 2015; 77(2): 363–369. DOI: 10.1038Frustaci A., Chimenti C. Immunosuppressive therapy in myocarditis. Circ J 2015; 79(1): 4–7. DOI: 10.1253/circFrustaci A., Chimenti C. Immunosuppressive therapy in myocarditis. Circ J 2015; 79(1): 4–7. DOI: 10.1253/circPonikowski P., Voors A.A., Anker S.D., Bueno H., Cle-land J.G.F., Coats A.J.S. et al. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC)Developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur Heart J 2016; 37(27): 2129–2200. DOI: 10.1093/eurheartj/ehw128Ponikowski P., Voors A.A., Anker S.D., Bueno H., Cle-land J.G.F., Coats A.J.S. et al. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC)Developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur Heart J 2016; 37(27): 2129–2200. DOI: 10.1093/eurheartj/ehw128Bonnet D., Berger F., Jokinen E., Kantor P.F., Daubeney P.E.F. Ivabradine in children with dilated cardiomyopathy and symptomatic chronic heart failure. J Am Coll Cardiol 2017; 70(10): 1262–1272. DOI: 10.1016/j.jacc.2017.07.725Bonnet D., Berger F., Jokinen E., Kantor P.F., Daubeney P.E.F. Ivabradine in children with dilated cardiomyopathy and symptomatic chronic heart failure. J Am Coll Cardiol 2017; 70(10): 1262–1272. DOI: 10.1016/j.jacc.2017.07.725Wang N.C., Singh M., Adelstein E.C., Jain S.K., Menden-hall G.S., Shalaby A.A., Voigt A.H., Saba S. New-onset left bundle branch block-associated idiopathic nonischemic cardiomyopathy and left ventricular ejection fraction response to guideline-directed therapies: The NEOLITH study. Heart Rhythm 2016; 13(4): 933–942. DOI: 10.1016 /j.hrthm.2015.12.020Wang N.C., Singh M., Adelstein E.C., Jain S.K., Menden-hall G.S., Shalaby A.A., Voigt A.H., Saba S. New-onset left bundle branch block-associated idiopathic nonischemic cardiomyopathy and left ventricular ejection fraction response to guideline-directed therapies: The NEOLITH study. Heart Rhythm 2016; 13(4): 933–942. DOI: 10.1016 /j.hrthm.2015.12.020González -Torrecilla E., Arenal A., Atienza F., Datino T., Bravo L., Ruiz P. et al. Current Indications for Implantable Cardioverter Defibrillators in Non-Ischemic Cardiomyopathies and Channelopathies. Rev Recent Clin Trials 2015; 10(2): 111.González -Torrecilla E., Arenal A., Atienza F., Datino T., Bravo L., Ruiz P. et al. Current Indications for Implantable Cardioverter Defibrillators in Non-Ischemic Cardiomyopathies and Channelopathies. Rev Recent Clin Trials 2015; 10(2): 111.Braunwald E.B. The Management of Heart Failure: The Past, the Present, and the Future. Circ Heart Fail 2008; 1: 58–62. DOI: 10.1161 /CIRCHEARTFAILURE.107.752162Braunwald E.B. The Management of Heart Failure: The Past, the Present, and the Future. Circ Heart Fail 2008; 1: 58–62. DOI: 10.1161 /CIRCHEARTFAILURE.107.752162

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