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”perinatology-202Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSПоражение сердца при наследственных нервно-мышечных заболеваниях у детейCardiac lesion in children with inherited neuromuscular diseasesГрозноваО. С.GroznovaO. S.

к.м.н., в.н.с. отделения патологии сердечно-сосудистой системы Научно-исследовательского клинического института педиатрии и детской хирургии

РуденскаяГ. Е.RudenskayaG. E.

д.м.н., в.н.с. научно-консультативного отдела Медико-генетического научного центра РАМН

АдянТ. А.AdyanT. A.

н.с. лаборатории ДНК-диагностики того же учреждения

ХарламовД. А.KharlamovD. A.

к.м.н., в.н.с. отделения психоневрологии и эпилептологии того же учреждения 125412 Москва, ул. Талдомская, д. 2

Научно-исследовательский клинический институт педиатрии; Медико-генетический научный центр РАМН, МоскваРоссияResearch Clinical Institute of Pediatrics; Medical Genetics Research Center Russian Academy of Medical Sciences, MoscowRussian Federation2014150320165923542Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “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/202

Представлены современные взгляды на концепцию единства патологических изменений в скелетной и сердечной мышцах при наследственных нервно-мышечных заболеваниях у детей: миодистрофиях, спинальных амиотрофиях, врожденных ми-опатиях, миофибриллярных миопатиях, метаболических миопатиях, миотонии, полиневропатии и др.

The paper presents the current views regarding the concept of unity of pathological changes in the skeletal and cardiac muscles in children with inherited neuromuscular diseases: myodystrophies, spinal amyotrophies, congenital myopathies, myonbrillar myopa-thies, metabolic myopathies, myotonia, polyneuropathies, and etc.

детинервно-мышечные заболеваниямиопатиямиодистрофияамиотрофиямиотониясердечно-сосудистые нарушениякардиомиопатиянарушение ритма сердцанарушение проводимости сердца.childrenneuromuscular diseasesmyopathymyodystrophyamyotrophymyotoniacardiovascular disorderscardiomy-opathycardiac rhythm disturbancecardiac conduction disturbance.ReferencesFinsterer J., Stujlberger С, Wahbi К. Cardiomyopathy in neurological disordeis. Cardiovasc Pathol 2013; 22:5:389—400.Finsterer J., Stujlberger С, Wahbi К. Cardiomyopathy in neurological disordeis. Cardiovasc Pathol 2013; 22:5:389—400.Finsterer J., Stuflberger C. Primary myopathies and the heart. Scand Cardiovasc J 2008; 42: 1: 9—24.Finsterer J., Stuflberger C. Primary myopathies and the heart. Scand Cardiovasc J 2008; 42: 1: 9—24.Kostareva A., Sejersen Т., Sjoberg G. Genetic spectrum ofcardiomyopathies with neuromuscular phenotype. Front Biosci (Schol Ed) 2013; 5: 325-340.Kostareva A., Sejersen Т., Sjoberg G. Genetic spectrum ofcardiomyopathies with neuromuscular phenotype. Front Biosci (Schol Ed) 2013; 5: 325-340.Kaplan J., Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders 2013; 23: 1081—1111.Kaplan J., Hamroun D. The 2014 version of the gene table of monogenic neuromuscular disorders (nuclear genome). Neuromuscular Disorders 2013; 23: 1081—1111.Perrot A., Spuler S., Geier C, Dietz R-, Osterziel K.J. Cardiac manifestations of muscular dystrophies. Z Kardiol 2005; 94: 5: 312-320.Perrot A., Spuler S., Geier C, Dietz R-, Osterziel K.J. Cardiac manifestations of muscular dystrophies. Z Kardiol 2005; 94: 5: 312-320.Hsu D.T. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 2010; 11: 1: 35—38.Hsu D.T. Cardiac manifestations of neuromuscular disorders in children. Paediatr Respir Rev 2010; 11: 1: 35—38.KatzbergH, Karamchandani J., So Y.T., Vogel H, Wang C.H. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010; 25: 11: 1382-1388.KatzbergH, Karamchandani J., So Y.T., Vogel H, Wang C.H. End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review. J Child Neurol 2010; 25: 11: 1382-1388.English K. M., Gibbs J. L. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006; 48: 3: 231-235.English K. M., Gibbs J. L. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 2006; 48: 3: 231-235.Hermans M.C., Pinto Y.M., Merkies I.S. et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 8: 479-492.Hermans M.C., Pinto Y.M., Merkies I.S. et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 8: 479-492.Posada Rodrnguez, I.J-, Gutiurrez-Rivas E., Cabello A. Cardiac involvement in neuromuscular diseases. Rev Esp Cardiol 1997; 50: 12: 882-901.Posada Rodrnguez, I.J-, Gutiurrez-Rivas E., Cabello A. Cardiac involvement in neuromuscular diseases. Rev Esp Cardiol 1997; 50: 12: 882-901.Limongelli G., D'Alessandro R., Maddaloni V. et al. Skeletal muscle involvement in cardiomyopathies. J Cardiovasc Med (Hagerstown) 2013; 14: 12: 837—861.Limongelli G., D'Alessandro R., Maddaloni V. et al. Skeletal muscle involvement in cardiomyopathies. J Cardiovasc Med (Hagerstown) 2013; 14: 12: 837—861.Fayssoil A., Nardi O., Orlikowski D., Annane D. Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics. Heart Fail Rev 2010; 15: 1: 103-107.Fayssoil A., Nardi O., Orlikowski D., Annane D. Cardiomyopathy in Duchenne muscular dystrophy: pathogenesis and therapeutics. Heart Fail Rev 2010; 15: 1: 103-107.Carboni N, Mura M., Mercuri E. et al. Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2012; 22: 2:152—158.Carboni N, Mura M., Mercuri E. et al. Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2012; 22: 2:152—158.James J., Kinnett K., Wang Y. et al. Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord 2011; 21: 7: 462—467.James J., Kinnett K., Wang Y. et al. Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord 2011; 21: 7: 462—467.Ergul Y, Ekici В., Nisli K. et al. Evaluation of the North Star Ambulatory Assessment scale and cardiac abnormalities in ambulant boys with Duchenne muscular dystrophy. J Paediatr Child Health 2012; 10: 1440.Ergul Y, Ekici В., Nisli K. et al. Evaluation of the North Star Ambulatory Assessment scale and cardiac abnormalities in ambulant boys with Duchenne muscular dystrophy. J Paediatr Child Health 2012; 10: 1440.Kaspar R.W., Allen H.D., Montanaro F. Current understandingKaspar R.W., Allen H.D., Montanaro F. Current understandingand management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. JAm Acad Nurse Pract 2009; 21: 5: 241-249.and management of dilated cardiomyopathy in Duchenne and Becker muscular dystrophy. JAm Acad Nurse Pract 2009; 21: 5: 241-249.Nigro G., Comi L. I., Limongelli F. M. et al. The incidence and evoluation of cardiomyopathy in Duchenne muscular dystrophy. Int J of Cardiology 1990; 26: 271.Nigro G., Comi L. I., Limongelli F. M. et al. The incidence and evoluation of cardiomyopathy in Duchenne muscular dystrophy. Int J of Cardiology 1990; 26: 271.Ерознова О.С, Еренева М.С. Применение ингибиторов ангиотензинпревращающего фермента и бета-блока-торов у больных миопатией Дюшенна в длительном катамнезе. Рос вестн перинатол и педиат 2012; 4: 1: 87—89. (Groznova O.S., Treneva M.S. Use of an angiotensin-converting enzyme inhibitor and a beta-blocker in patients with Duchenne muscular dystrophy during a long term follow up. Ros vestn perinatal i pediatr 2012; 4(1): 87—89.)Ерознова О.С, Еренева М.С. Применение ингибиторов ангиотензинпревращающего фермента и бета-блока-торов у больных миопатией Дюшенна в длительном катамнезе. Рос вестн перинатол и педиат 2012; 4: 1: 87—89. (Groznova O.S., Treneva M.S. Use of an angiotensin-converting enzyme inhibitor and a beta-blocker in patients with Duchenne muscular dystrophy during a long term follow up. Ros vestn perinatal i pediatr 2012; 4(1): 87—89.)Connuck D.M., Sleeper L.A., Colan S.D. et al. Characteristics and Outcomes of Cardiomyopathy in Children with Duchenne or Becker Muscular Dystrophy: A Comparative Study from The Pediatric Cardiomyopathy Registry. Am Heart J 2008; 155:6:998-1005.Connuck D.M., Sleeper L.A., Colan S.D. et al. Characteristics and Outcomes of Cardiomyopathy in Children with Duchenne or Becker Muscular Dystrophy: A Comparative Study from The Pediatric Cardiomyopathy Registry. Am Heart J 2008; 155:6:998-1005.Ерознова О.С, Артемьева СБ. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Беккера. Рос вестн перинатол и педиат 2013; 4: 83—87. (Groznova O.S., Artem'eva S.B. Cardiovascular system lesion in Becker's progressive muscular dystrophy. Ros vestn perinatal i pediatr 2013; 4; 83—87.)Ерознова О.С, Артемьева СБ. Поражение сердечно-сосудистой системы при прогрессирующей мышечной дистрофии Беккера. Рос вестн перинатол и педиат 2013; 4: 83—87. (Groznova O.S., Artem'eva S.B. Cardiovascular system lesion in Becker's progressive muscular dystrophy. Ros vestn perinatal i pediatr 2013; 4; 83—87.)Puckelwartz, M., McNally E.M. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101: 155—166.Puckelwartz, M., McNally E.M. Emery-Dreifuss muscular dystrophy. Handb Clin Neurol 2011; 101: 155—166.Nigro G., Russo V., Ventriglia V.M. et al. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2010; 20: 3: 174—177.Nigro G., Russo V., Ventriglia V.M. et al. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2010; 20: 3: 174—177.Ерознова О.С, Новиков П.В. Ранняя диагностика поражения сердца при Х-сцепленной форме мышечной дистрофии Эмери—Дрейфусса у детей. Рос вестн перина-толипедиатр 2011; 1: 27—32. (GroznovaО.S., NovikovP.V. Early diagnosis of cardiac lesion in X-linked Emery-Dreifus muscular dystrophy in children. Ros vestn perinatal i pediatr 2011; 1:27-32.)Ерознова О.С, Новиков П.В. Ранняя диагностика поражения сердца при Х-сцепленной форме мышечной дистрофии Эмери—Дрейфусса у детей. Рос вестн перина-толипедиатр 2011; 1: 27—32. (GroznovaО.S., NovikovP.V. Early diagnosis of cardiac lesion in X-linked Emery-Dreifus muscular dystrophy in children. Ros vestn perinatal i pediatr 2011; 1:27-32.)Ерознова О.С, Еренева М.С. Генетические аспекты возникновения жизнеугрожаемых состояний у больных миопатией. Рос вестн перинатол и педиат 2011; 5: 38— 41. (Groznova O.S., Treneva M.S. Genetic aspects of the occurrence of life-threatening conditions in patients with myopathy. Ros vestn perinatal ipediat 2011; 5: 38—41.)Ерознова О.С, Еренева М.С. Генетические аспекты возникновения жизнеугрожаемых состояний у больных миопатией. Рос вестн перинатол и педиат 2011; 5: 38— 41. (Groznova O.S., Treneva M.S. Genetic aspects of the occurrence of life-threatening conditions in patients with myopathy. Ros vestn perinatal ipediat 2011; 5: 38—41.)Ishikawa K., Mimuro M., Eanaka E. Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. Intern Med 2011; 50: 5: 459—462.Ishikawa K., Mimuro M., Eanaka E. Ventricular arrhythmia in X-linked Emery-Dreifuss muscular dystrophy: a lesson from an autopsy case. Intern Med 2011; 50: 5: 459—462.Norwood F., de Visser M., Eymard B. et al. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neural 2007; 14: 1305-1312.Norwood F., de Visser M., Eymard B. et al. EFNS guideline on diagnosis and management of limb girdle muscular dystrophies. Eur J Neural 2007; 14: 1305-1312.Verhaert D., Richards K, Rafael-Fortney J.A., Raman S.V. Cardiac Involvement in Patients with Muscular Dystrophies: Magnetic Resonance Imaging Phenotype and Genotypic Considerations. Circ Cardiovasc Imaging 2011; 4: 1: 67—76.Verhaert D., Richards K, Rafael-Fortney J.A., Raman S.V. Cardiac Involvement in Patients with Muscular Dystrophies: Magnetic Resonance Imaging Phenotype and Genotypic Considerations. Circ Cardiovasc Imaging 2011; 4: 1: 67—76.Finsterer J., Ramaciotti C, Wang C.H et al. Cardiac findings in congenital muscular dystrophies. Pediatrics 2010; 126: 3: 538—545.Finsterer J., Ramaciotti C, Wang C.H et al. Cardiac findings in congenital muscular dystrophies. Pediatrics 2010; 126: 3: 538—545.Muchir A., Bonne G., van der Kooi A.J. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9: 1453—1459.Muchir A., Bonne G., van der Kooi A.J. et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000; 9: 1453—1459.Kitaguchi Т., Matsubara S., Sato M. et al. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord 2001; 11: 542—546.Kitaguchi Т., Matsubara S., Sato M. et al. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord 2001; 11: 542—546.Jethwa H., Jacques T.S., Gunny R. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. Pediatr Rheumatol Online J 2013; 11: 19.Jethwa H., Jacques T.S., Gunny R. Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report. Pediatr Rheumatol Online J 2013; 11: 19.OkereA., ReddyS.S., GuptaS., ShinnarM. Acardiomyopathy in a patient with limb girdle muscular dystrophy type 2A. Circ Heart Fail 2013; 6: 1:12-13.OkereA., ReddyS.S., GuptaS., ShinnarM. Acardiomyopathy in a patient with limb girdle muscular dystrophy type 2A. Circ Heart Fail 2013; 6: 1:12-13.Грознова О.С., Руденская F.E., Рыжкова О.FT. Поражение сердечно-сосудистой системы при конечност-но-поясной мышечной дистрофии тип 2А (калпаино-патия). Рос вестн перинатол и педиат 2012; 6: 22—24. (Groznova O.S., Rudenskaja G.E., Ryzhkova О.P. Lesion of the cardiovascular system in limb-girdle muscular dystrophy type 2A (calpainopathy). Ros vestn perinatal i pediat 2012; 6: 22-24.)Грознова О.С., Руденская F.E., Рыжкова О.FT. Поражение сердечно-сосудистой системы при конечност-но-поясной мышечной дистрофии тип 2А (калпаино-патия). Рос вестн перинатол и педиат 2012; 6: 22—24. (Groznova O.S., Rudenskaja G.E., Ryzhkova О.P. Lesion of the cardiovascular system in limb-girdle muscular dystrophy type 2A (calpainopathy). Ros vestn perinatal i pediat 2012; 6: 22-24.)Delia Marca G., Frusciante R., Scatena M. et al. Heart rate variability in facioscapulohumeral muscular dystrophy. Funct Neural 2010; 25: 4: 211-216.Delia Marca G., Frusciante R., Scatena M. et al. Heart rate variability in facioscapulohumeral muscular dystrophy. Funct Neural 2010; 25: 4: 211-216.Trevisan СР., Pastorello E., Armani M. et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. EurNeurol 2006; 56: 1: 1—5.Trevisan СР., Pastorello E., Armani M. et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. EurNeurol 2006; 56: 1: 1—5.Tsuji M., Kinoshita M., Imai Y. et al. Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study. Neuromuscul Disord 2009; 19: 2: 140-142.Tsuji M., Kinoshita M., Imai Y. et al. Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study. Neuromuscul Disord 2009; 19: 2: 140-142.Groh W.J. Arrhythmias in the muscular dystrophies. Heart Rhythm 2012; 9: 11: 1890—1895.Groh W.J. Arrhythmias in the muscular dystrophies. Heart Rhythm 2012; 9: 11: 1890—1895.Vattemi G., Neri M., Piffer S. et al. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrfflar myopathy. Acta Myol 2011; 30: 2: 121—126.Vattemi G., Neri M., Piffer S. et al. Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrfflar myopathy. Acta Myol 2011; 30: 2: 121—126.Chauveau C, Bonnemann C.G., Julien C. etal. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 2013; 1: 8.Chauveau C, Bonnemann C.G., Julien C. etal. Recessive TTN truncating mutations define novel forms of core myopathy with heart disease. Hum Mol Genet 2013; 1: 8.Hoist J.M., Willis M.J. A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy. Case Rep Pediat 2012; 2012: 836420.Hoist J.M., Willis M.J. A Fatal Case of Cor Pulmonale with Undetected Chronic Hypoventilation in an Infant with a Known Congenital Myopathy. Case Rep Pediat 2012; 2012: 836420.GatayamaR., Ueno K., Nakamura H. et al. Nemaline myopathy with dilated cardiomyopathy in childhood. Pediatrics 2013; 131:6:1986-1990.GatayamaR., Ueno K., Nakamura H. et al. Nemaline myopathy with dilated cardiomyopathy in childhood. Pediatrics 2013; 131:6:1986-1990.TagliaA., DAmbrosioP., PalladinoA., PolitanoF. Onacaseof respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. Acta Myol 2012; 31: 3:201-203.TagliaA., DAmbrosioP., PalladinoA., PolitanoF. Onacaseof respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy. Acta Myol 2012; 31: 3:201-203.Finsterer J., Stollberger C, Hoftberger R. Restrictive cardiomyopathy as a cardiac manifestation of myofibrfflar myopathy. Heart Lung 2011; 40: 5: 123—127.Finsterer J., Stollberger C, Hoftberger R. Restrictive cardiomyopathy as a cardiac manifestation of myofibrfflar myopathy. Heart Lung 2011; 40: 5: 123—127.Uppin M.S., MeenaA.K, Sundaram C. Spectrum of congenital myopathies: a single centre experience. Neurol India 2013; 61: 3: 254-259.Uppin M.S., MeenaA.K, Sundaram C. Spectrum of congenital myopathies: a single centre experience. Neurol India 2013; 61: 3: 254-259.Cao F., Hong D., Zhu M. et al. A novel heterozygous deletion-Cao F., Hong D., Zhu M. et al. A novel heterozygous deletion-insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy. Clin Neuropathol 2013; 32: 1:9-15.insertion mutation in the desmin gene causes complete atrioventricular block and mild myopathy. Clin Neuropathol 2013; 32: 1:9-15.Wahbi K, Buhin A., Charron P. et al. High cardiovascular morbidity and mortality in myofibrfflar myopathies due to DES gene mutations: a 10-year longitudinal study. Neuromuscul Disord 2012; 22: 3:211-218.Wahbi K, Buhin A., Charron P. et al. High cardiovascular morbidity and mortality in myofibrfflar myopathies due to DES gene mutations: a 10-year longitudinal study. Neuromuscul Disord 2012; 22: 3:211-218.Fujita M., Mitsuhashi H, Isogai S. et al. Filamin С plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev Biol 2012; 361: 1: 79—89.Fujita M., Mitsuhashi H, Isogai S. et al. Filamin С plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. Dev Biol 2012; 361: 1: 79—89.Selcen D., Engel A.G. Myofibrfflar Myopathy. Handb Clin Neurol 2011; 101: 143-154.Selcen D., Engel A.G. Myofibrfflar Myopathy. Handb Clin Neurol 2011; 101: 143-154.Sparks S., Quijano-Roy S., Harper A. et al. Congenital Muscular Dystrophy Overview. In: R.A. Pagon, M.P. Adam, T.D. Bird et al. (eds). GeneReviews™ . Seattle (WA): University of Washington, Seattle; 1993—2013. http://www. ncbi.nlm.nih.gov/pubmed/20301468 [uid].Sparks S., Quijano-Roy S., Harper A. et al. Congenital Muscular Dystrophy Overview. In: R.A. Pagon, M.P. Adam, T.D. Bird et al. (eds). GeneReviews™ . Seattle (WA): University of Washington, Seattle; 1993—2013. http://www. ncbi.nlm.nih.gov/pubmed/20301468 [uid].Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000; 94: 1: 1—11.Finsterer J, Stollberger C. Cardiac involvement in primary myopathies. Cardiology 2000; 94: 1: 1—11.Pane M., Messina S., Vasco G. et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 2012; 22: 8: 685-689.Pane M., Messina S., Vasco G. et al. Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency. Neuromuscul Disord 2012; 22: 8: 685-689.Bello F., Melacini P., Pezzani R. et al. Cardiomyopathy in patients with POMTl-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 2012; 20: 12: 1234— 1239.Bello F., Melacini P., Pezzani R. et al. Cardiomyopathy in patients with POMTl-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet 2012; 20: 12: 1234— 1239.Nakanishi F., Sakauchi M., Kaneda Y. et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006; 117: 6: 1187-1192.Nakanishi F., Sakauchi M., Kaneda Y. et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006; 117: 6: 1187-1192.Yoda M., Fanabe H, Nishino I, Suma H. Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy. Eur J Cardiothorac Surg 2011; 40: 2: 514—516.Yoda M., Fanabe H, Nishino I, Suma H. Left ventriculoplasty for dilated cardiomyopathy in Fukuyama-type muscular dystrophy. Eur J Cardiothorac Surg 2011; 40: 2: 514—516.Hermans M.C., Pinto Y.M, Merkies I.S. et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 8: 479-492.Hermans M.C., Pinto Y.M, Merkies I.S. et al. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010; 20: 8: 479-492.Грознова О.С, Леонтьева КВ., Сухорукое B.C. и др. Поражение сердечно-сосудистой системы при митопа-тии Бетлема. Рос вестн перинатол и педиат 2012; 2: 35—39. (Groznova O.S., Leont'eva I.V., Suhorukov V.S. et al. Cardiovascular system involvement in Betlhem myopathy. Ros vest perinatal i pediat 2012; 2: 35—39.)Грознова О.С, Леонтьева КВ., Сухорукое B.C. и др. Поражение сердечно-сосудистой системы при митопа-тии Бетлема. Рос вестн перинатол и педиат 2012; 2: 35—39. (Groznova O.S., Leont'eva I.V., Suhorukov V.S. et al. Cardiovascular system involvement in Betlhem myopathy. Ros vest perinatal i pediat 2012; 2: 35—39.)Dhand U.K., Raja F., Aggarwal К Structural myocardial involvement in adult patients with type 1 myotonic dystrophy. Neurol Int 2013; 5: 1: e5.Dhand U.K., Raja F., Aggarwal К Structural myocardial involvement in adult patients with type 1 myotonic dystrophy. Neurol Int 2013; 5: 1: e5.Melacini P., Buja G., Fasoli G. et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients. Clin Cardiol 1988; 11: 231—238.Melacini P., Buja G., Fasoli G. et al. The natural history of cardiac involvement in myotonic dystrophy: an eight-year follow-up in 17 patients. Clin Cardiol 1988; 11: 231—238.Bhakta D., Fowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 2004; 147: 224—227.Bhakta D., Fowe M.R., Groh W.J. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 2004; 147: 224—227.Babuty D., Fauchier F., Fena-Carbi D. et al. Cosnay P. Is it possible to identify infrahissian cardiac conduction abnormalities in myotonic dystrophy by non-invasive methods? Heart 1999; 82: 634—637.Babuty D., Fauchier F., Fena-Carbi D. et al. Cosnay P. Is it possible to identify infrahissian cardiac conduction abnormalities in myotonic dystrophy by non-invasive methods? Heart 1999; 82: 634—637.Finsterer J., Stullberger С, Blazek G. et al. Cardiac involvement over 10 years in myotonic and Becker muscular dystrophy and mitochondrial disorder. Int J Cardiol 2007; 119: 2: 176—184.Finsterer J., Stullberger С, Blazek G. et al. Cardiac involvement over 10 years in myotonic and Becker muscular dystrophy and mitochondrial disorder. Int J Cardiol 2007; 119: 2: 176—184.Леонтьева И.В., Белозеров Ю.М., Сухорукое B.C., Николаева E.A. Проблемы современной диагностики метаболических кардиомиопатий. Рос вестн перинатол и педиат 2012; 4: 1: 55—63. (Leont'eva I.V., Belozerov Ju.M., Suhorukov VS., Nikolaeva E.A Modern aspects of metabolic cardiomyopathy diagnostics. Ros vestn perinatal i pediat 2012; 4: 1: 55—63.Леонтьева И.В., Белозеров Ю.М., Сухорукое B.C., Николаева E.A. Проблемы современной диагностики метаболических кардиомиопатий. Рос вестн перинатол и педиат 2012; 4: 1: 55—63. (Leont'eva I.V., Belozerov Ju.M., Suhorukov VS., Nikolaeva E.A Modern aspects of metabolic cardiomyopathy diagnostics. Ros vestn perinatal i pediat 2012; 4: 1: 55—63.Николаева Е.А., Козина А.А., Леонтьева И.В., Иткис Ю.С. Системное митохондриальное заболевание: проблема дифференциальной диагностики и лечения. Рос вестн перинатол и педиатр 2012; 4: 2: 54—61. (Nikolaeva E.A, Kozina A.A., Leont'evaI.V., Itkis Ju.S. Systemic mitochondrial disease: a problem of differential diagnosis and treatment. Ros vestn perinatal ipediat 2012; 4: 2: 54—61.Николаева Е.А., Козина А.А., Леонтьева И.В., Иткис Ю.С. Системное митохондриальное заболевание: проблема дифференциальной диагностики и лечения. Рос вестн перинатол и педиатр 2012; 4: 2: 54—61. (Nikolaeva E.A, Kozina A.A., Leont'evaI.V., Itkis Ju.S. Systemic mitochondrial disease: a problem of differential diagnosis and treatment. Ros vestn perinatal ipediat 2012; 4: 2: 54—61.StollbergerC, FinstererJ., SodeckG.H., WeidingerF. Complete atrioventricular block and reversible systolic dysfunction in left ventricular hypertrabeculation/non-compaction with metabolic myopathy. Cardiol Young 2011; 21: 2: 229—232.StollbergerC, FinstererJ., SodeckG.H., WeidingerF. Complete atrioventricular block and reversible systolic dysfunction in left ventricular hypertrabeculation/non-compaction with metabolic myopathy. Cardiol Young 2011; 21: 2: 229—232.Леонтьева И.В., Алимина E.F., Золкина И.А. Клиническое значение оценки показателей карнитинового обмена при кардиомиопатиях у детей. Практика педиатра 2012; октябрь: 47—52. (Leont'eva I.V., Alimina E.G., Zolkina LA. Evaluation of carnitine metabolism clinical aspects in children with cardiomyopathy. Praktikapediatra2012; oktjabr: 47—52.Леонтьева И.В., Алимина E.F., Золкина И.А. Клиническое значение оценки показателей карнитинового обмена при кардиомиопатиях у детей. Практика педиатра 2012; октябрь: 47—52. (Leont'eva I.V., Alimina E.G., Zolkina LA. Evaluation of carnitine metabolism clinical aspects in children with cardiomyopathy. Praktikapediatra2012; oktjabr: 47—52.StojanovskaJ., GargA., PatelS. etal. Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification. Radiographics 2013; 33: 7: 1977-2001.StojanovskaJ., GargA., PatelS. etal. Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification. Radiographics 2013; 33: 7: 1977-2001.DistefanoG., SciaccaP., Parisi M.G. et al. Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood. Pediatr Med Chir 1994; 16: 2: 125-128.DistefanoG., SciaccaP., Parisi M.G. et al. Heart involvement in progressive spinal muscular atrophy. A review of the literature and case histories in childhood. Pediatr Med Chir 1994; 16: 2: 125-128.Goebel H.H., Fardeau M. Familial desmin-related myopathies and cardiomyopathies—from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20—22 October, 1995, Naarden, The Netherlands. Neuromuscul Disord 1996; 6: 5: 383-388.Goebel H.H., Fardeau M. Familial desmin-related myopathies and cardiomyopathies—from myopathology to molecular and clinical genetics. 36th European Neuromuscular Center (ENMC)-Sponsored International Workshop 20—22 October, 1995, Naarden, The Netherlands. Neuromuscul Disord 1996; 6: 5: 383-388.Weidemann F., Stu,rk S., Liu D. et al. Cardiomyopathy of Friedreichataxia. JNeurochem2013; 126: Suppl 1: 88—93.Weidemann F., Stu,rk S., Liu D. et al. Cardiomyopathy of Friedreichataxia. JNeurochem2013; 126: Suppl 1: 88—93.Isner J.M., Hawley R.J., Weintraub A.M., Engel W.K. Cardiac findings in Charcot—Marie—Tooth disease. A prospective study of 68 patients. Arch Intern Med 1979; 139: 10: 1161-1165.Isner J.M., Hawley R.J., Weintraub A.M., Engel W.K. Cardiac findings in Charcot—Marie—Tooth disease. A prospective study of 68 patients. Arch Intern Med 1979; 139: 10: 1161-1165.

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