Митохондриальные кардиомиопатии
Аннотация
Рассмотрена проблема диагностики гетерогенных форм митохондриальных кардиомиопатий, связанных с нарушением окислительного фосфорилирования и снижением активности митохондриальной электронно-транспортной системы вследствие мутации генов митохондриальной или ядерной ДНК. Подчеркнуто, что митохондриальные кардиомиопатии редко представляют изолированное поражение миокарда, чаще служат проявлением мультисистемного заболевания. Дана характеристика кардиомиопатии при отдельных митохондриальных синдромах, отражены возможности лечения патологии.
Ключевые слова
дети,
кардиомиопатия,
митохондриальное заболевание,
синдромы Кернса–Сейра,
MELAS,
MERRF,
NARP,
Барта,
Ли,
убидекаренон,
сукцинаты,
цитохром С,
левокарнитин
Об авторах
И. В. Леонтьева
ОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова
Россия
Россия
д.м.н., проф., гл. н. сотр. отдела детской кардиологии и аритмологии,
125412 Москва, ул. Талдомская, д.2
Е. А. Николаева
ОСП «Научно-исследовательский клинический институт педиатрии им. Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова
Россия
Россия
д.м.н., и.о. рук. отдела психоневрологии и наследственных заболеваний,
125412 Москва, ул. Талдомская, д.2
Список литературы
1. Wilkinson J.D., Landy D.C., Colan S.D. et al. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin 2010; 6: 401–441.
2. Byers S.L., Ficicioglu C. Infant with cardiomyopathy: When to suspect inborn errors of metabolism? World J Cardiol 2014; 6: 11: 1149–1155.
3. Cox G.F. Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy. Prog Pediatr Cardiol 2007; 24: 15–25.
4. Elliott P., Andersson B., Arbustini E. et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008; 29: 270–276.
5. Meyers D.E., Basha H.I., Koenig M.K. Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management. Tex Heart Inst J 2013; 40: 385–394.
6. Berardo A., Musumeci O., Toscano A. Cardiological manifestations of mitochondrial respiratory chain disorders. Acta Myologica 2011; XXX: 9–15.
7. Holmgren D., Wahlander H., Eriksson B.O. et al. Cardiomyopathy in children with mitochondrial disease: clinical course and cardiological findings. Eur Heart J 2003; 4: 280–288.
8. Kompare M., Rizzo W.B. Mitochondrial fatty-acid oxidation disorders. Semin Pediatr Neurol 2008; 15: 140–149.
9. Noji H., Yoshida M. The rotary machine of the cell, ATP synthase. J Biol Chem 2001; 276: 1665–1668.
10. Niizuma K., Endo H., Chan P.H. Oxidative stress and mitochondrial dysfunction as determinants of ischemic neuronal death and survival. J Neurochem 2009; 109: 133–138.
11. Mehrazin M., Shanske S., Kaufmann P. et al. Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS. Am J Med Genet 2009; 149: 584–587.
12. Zeviani M., Moraes C.T., DiMauro S. et al. Deletions of mitochondrial DNA in Kearns–Sayre syndrome. Neurology 1998; 51: 1525–1533.
13. Hudson G., Deschauer M., Taylor R.W. et al. POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. Neurology 2006; 66: 1439–1441.
14. López-Gallardo E., López-Pérez M.J., Montoya J. et al. CPEO and KSS differ in the percentage and location of the mtDNA deletion. Mitochondrion 2009; 9: 314–317.
15. Van Goethem G., Martin J.J., Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurol Belg 2002; 102: 39–42.
16. Papa S., Petruzzella V., Scacco S. et al. Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases. Biochim Biophys Acta 2009; 1787: 502–517.
17. Monnot S., Chabrol B., Cano A. et al. Cytochrome c oxydasedeficient Leigh syndrome with homozygous mutation in SURF1 gene. Arch Pediatr 2005; 12: 568–571.
18. Mobley B.C., Enns G.M., Wong L.J. et al. A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy. Clin Neuropathol 2009; 28: 143–149.
19. Jordens E.Z., Palmieri L., Huizing M. et al. Adenine nucleotide translocator 1 deficiency associated with Sengers syndrome. Ann Neurol 2002; 52: 95–99.
20. Palmieri L., Alberio S., Pisano I. et al. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet 2005; 14: 3079–3088.
21. Joost K., Rodenburg R., Piirsoo A. et al. A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy. Pediatr Neurol 2010; 42: 227–230.
22. Zeviani M. The expanding spectrum of nuclear gene mutations in mitochondrial disorders. Semin Cell Dev Biol 2001; 12: 407–416.
23. Николаева Е.А. Диагностика и профилактика ядерно-кодируемых митохондриальных заболеваний у детей. Рос вестн перинатол и педиатр 2014; 59: 2: 19–28. (Nikolaeva E.А. Diagnostics and prevention of nuclear coded mitochondrial diseases at children. Ros vestn perinatol i pediatr 2014; 59: 2: 19–28.)
24. Colan S.D. Hypertrophic cardiomyopathy in childhood. Heart Fail Clin 2010; 6: 433–444.
25. Houtkooper R.H., Turkenburg M., Poll-The B.T. et al. The enigmaticrole of tafazzin in cardiolipin metabolism. Biochim Biophys Acta 2009; 1788: 2003.
26. Леонтьева И.В., Николаева Е.А. Поражение сердца при синдроме Барта. Рос вестн перинатол и педиатр 2016; 1: 26–32. (Leont’eva I.V., Nikolaeva E.А. Cardiac damage in Barth syndrome. Ros vestn perinatol i pediatr 2016; 1: 26–32.)
27. Pandolfo M., Pastore A.The pathogenesis ofFriedreich ataxia and the structure and function of frataxin. J Neurol 2009; 256: 9–17.
28. Delatycki M.B. Evaluating the progression of Friedreich ataxia and its treatment. J Neurol 2009; 256: Suppl 1: 36–41.
29. Yaplito-Lee J., Weintraub R., Jamsen K. et al. Cardiac manifestations in oxidative phosphorylation disorders of childhood. J Pediatr 2007; 150: 407–411.
30. Di Leo R., Musumeci O., de Gregorio C. et al. Evidence of cardiovascular autonomic impairment in mitochondrial disorders. J Neurol 2007; 254: 1498–1503.
31. Scaglia F., Towbin J.A., Craigen W.J. et al. Clinical spectrum, morbidity,and mortality in 113 pediatric patients with mitochondrial disease. Pediatrics 2004; 114: 925–931.
32. Wabbels B., Ali N., Kunz W.S. et al. Chronic progressive external ophthalmoplegia and Kearns–Sayre syndrome: interdisciplinary diagnosis and therapy. Ophthalmology 2008; 105: 550–556.
33. Young T.J., Shah A.K., Lee M.H., Hayes D.L. Kearns–Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol 2005; 28: 454–457.
34. Леонтьева И.В., Николаева Е.А., Сухоруков В.С. Варианты поражения сердечно-сосудистой системы при синдроме Кернса–Сейра. Рос вестн перинатол и педиатр 1999; 6: 26–32. (Leont’eva I.V., Nikolaeva E.А., Suchorukov V.S. Variants of cardiovascular lesion in Kearns–Sayre syndrome. Рос вестн перинатол и педиатр 1999; 6: 26–32.)
35. Charles R., Holt S., Kay J.M. et al. Myocardial ultrastructure and the development of atrioventricular block in Kearns–Sayre syndrome. Circulation 1981; 63: 214–219.
36. Fromenty B., Carrozzo R., Shanske S., Schon E.A. High proportions of mtDNA duplications in patients with Kearns–Sayre syndrome occur in the heart. Am J Med Genet 1997; 71: 4: 443–452.
37. Kakura H., Tachibana Y., Nakamura K. et al. Mitochondrial encephalomyopathy (Kearns–Sayre syndrome) with complete atrioventricular block: a case report. Jpn Circ J 1998; 62: 8: 623–625.
38. Lewy P., Leroy G., Haiat R. et al. Kearns–Sayre syndrome. A rare indication for prophylactic cardiac pacing. Arch Mal Coeur Vaiss 1997; 90: 1: 93–97.
39. Subbiah R.N., Kuchar D., Baron D. Torsades de pointes in a patient with Kearns–Sayre syndrome: a fortunate finding. Pacing Clin Electrophysiol 2007; 30: 137–139.
40. Consalvo D., Villegas F., Villa A. Severe cardiac failure in Kearns–Sayre syndrome. Medicina (B Aires) 1997; 57: 1: 67–71.
41. Akaike M., Kawai H., Yokoi K. Cardiac dysfunction in patients with chronic progressive external ophthalmoplegia. Clin Cardiol 1997; 20: 3: 239–243.
42. Kabunga P., Lau A.K., Phan K. et al. Systematic review of cardiac electrical disease in Kearns–Sayre syndrome and mitochondrial cytopathy. Int J Cardiol 2015; 181: 303–310.
43. Hübner G., Gokel J.M., Pongratz D. et al. Fatal mitochondrial cardiomyopathy in Kearns–Sayre syndrome. Virchows Arch A Pathol Anat Histopathol 1986; 408: 6: 611–621.
44. Krauch G., Wilichowski E., Schmidt K.G. et al. Pearson marrowpancreas syndrome with worsening cardiac function caused by pleiotropic rearrangement of mitochondrial DNA. Am J Med Genet 2002; 110: 57–61.
45. Sproule D.M., Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype,and therapeutic management of MELAS syndrome. Ann N Y Acad Sci 2008; 1142: 133–158.
46. Kolb S.J., Costello F., Lee A.G. et.al. Distinguishing ischemic stroke from the stroke-like lesions of MELAS using apparent diffusion coefficient mapping. J Neurol Sci 2003; 216: 11–15.
47. GotoY.,Nonaka I.,Horai S.A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651–653.
48. Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation. Acta Neurol Scand 2007; 116: 1–14.
49. Finsterer J. MELAS in the heart. Int J Cardiol 2009; 137: 65–66.
50. Anan R., Nakagawa M., Miyata M. et al. Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995; 91: 955–961.
51. Sproule D.M., Kaufmann P., Engelstad K. et al. Wolff–Parkinson–White syndrome in patients with MELAS. Arch Neurol 2007; 64: 1625–1627.
52. Sato W., Tanaka M., Sugyama S. et al. Cardiomyopathy and angiopathy in patients with mithochondrial myopathy encephalopathy lactic acidosis and stroke like episodes. Amer Heart J 1994; 128: 4: 733–741.
53. Леонтьева И.В. Кардиомиопатии при первичной митохондриальной патологии. Лечащий врач 2002; 7-8: 58-66. (Leont’eva I.V. Cardiomyopathies at primary mitochondrial pathology. Lechashhij vrach 2002; 7-8: 58–66.)
54. Molnar M.J., Perenyi J., Siska E. et al. The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. J Neurol 2009; 256: 264–265.
55. Ozava T. Mitochondrial cardiomyopathy. Herz 1994; 19: 2: 105–118.
56. Wahbi K., Larue S., Jardel C. et al. Cardiac involvement is frequentin patients with the m.8344A>G mutation of mitochondrial DNA. Neurology 2010; 74: 674–677.
57. Сухоруков В.С. Очерки митохондриальной патологии. М: Медпрактика–М, 2011; 288. (Sukhorukov V.S. Mitochondrial pathology outlines. Moscow: Medpraktika 2011; 288.)
58. López-Gallardo E., Solano A., Herrero-Martín M.D. et al. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. J Med Genet 2009; 46: 64–67.
59. Bugiani M., Invernizzi F., Alberio S. et al. Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 2004; 1659: 136–147.
60. Piao Y.S., Tang G.C., Yang H. et al. Clinico-neuropathological study of a Chinese case of familiar adult Leigh syndrome. Neuropathol 2006; 26: 218–221.
61. Levitas A., Muhammad E., Harel G. et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet 2010; 18: 1160–1165.
62. Николаева Е.А., Яблонская М.И., Харабадзе М.Н. и др. Эффективность комплексной терапии при разных формах митохондриальных заболеваний у детей. Рос вестн перинатол и педиатр 2009; 6: 26-30. (Nikolaeva E.А., Yablonskaya M.I., Kharabadze M.N. et al. Efficiency of complex therapy at different forms of mitochondrial diseases at children. Ros vestn perinatol i pediatr 2009; 6: 26–30.)
63. Arakawa K., Kudo T., Ikawa M. et al. Abnormal myocardial energyproduction state in mitochondrial cardiomyopathy and acute response to L-arginine infusion: C-11 acetate kinetics revealed by positron emission tomography. Circ J 2010; 74: 2702.
64. Finsterer J., Stöllberger C., Gelpi E. Successful heart failure therapy in mitochondrial disorder with noncompaction cardiomyopathy Int J Cardiovasc Imaging 2006; 22: 393–398.
65. Fosslien E. Mitochondrial medicine–cardiomyopathy caused by defective oxidative phosphorylation. Ann Clin Lab Sci 2003; 33: 371–395.
66. Santorelli F.M., Gagliardi M.G., Dionisi-Vici C. et al. Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation. Neuromuscul Disord 2002; 12: 56–59.
Для цитирования:
Леонтьева И.В., Николаева Е.А. Митохондриальные кардиомиопатии. Российский вестник перинатологии и педиатрии. 2016;61(3):22-30. https://doi.org/10.21508/1027-4065-2016-61-3-22-30
For citation:
Leontyeva I.V., Nikolaeva E.A. Mitochondrial cardiomyopathies. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2016;61(3):22-30. (In Russ.) https://doi.org/10.21508/1027-4065-2016-61-3-22-30
Просмотров: 530
Послать статью по эл. почте 