Литература
1. Richardson P., McKenna W., Bristow M., Maisch B. et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies // Circulation. 1996. Vol. 93, N 5. P. 841-842. doi: 10.1161/01.CIR.93.5.841.
2. Seidman C.E., Seidman J.G. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history // Circ. Res. 2011. Vol. 108, N 6. P. 743-750. doi: 10.1161/ CIRCRESAHA.110.223834.
3. Dec G.W., Fuster V. Idiopathic dilated cardiomyopathy // N. Engl. J. Med. 1994. Vol. 331, N 23. P. 1564-1575. doi: 10.1056/ NEJM199412083312307.
4. Rivenes S.M., Kearney D.L., Smith E.O., Towbin J.A. et al. Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy // Circulation. 2000. Vol. 102, N 8. P. 876-882. URL: https://doi.org/10.1161/01.CIR.102.8.876.
5. Hamilton R.M. Arrhythmogenic right ventricular cardiomyopathy // Pacing Clin. Electrophysiol. 2009. Vol. 32, suppl. 2. S44-S51. doi: 10.1111/j.1540-8159.2009.02384.x.
6. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., Vosberg H.P. et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation // Cell. 1990. Vol. 62, N 5. P. 999-1006. URL: https://doi.org/10.1016/ 0092-8674(90)90274-1.
7. Kobayashi T., Solaro R.J. Calcium, thin filaments, and the integrative biology of cardiac contractility // Annu. Rev. Physiol. 2005. Vol. 67. P. 39-67. doi: 10.1146/annurev.physiol.67.040403.114025.
8. Franklin A.J., Baxley T., Kobayashi T., Chalovich J.M. The C-terminus of troponin T is essential for maintaining the inactive state of regulated actin // Biophys. J. 2012. Vol. 102, N 11. P. 25362544. doi: 10.1016/j.bpj.2012.04.037.
9. Thierfelder L., Watkins H., MacRae C., Lamas R. et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere // Cell. 1994. Vol. 77, N 5. P. 701-712. URL: https://doi.org/10.1016/0092-8674(94)90054-X
10. Pasquale F., Syrris P., Kaski J.P., Mogensen J. et al. Longterm outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene // Circ. Cardiovasc. Genet. 2012. Vol. 5, N 1. P. 10-17. doi: 10.1161/CIRCGENETICS.111.959973.
11. Oberst L., Zhao G., Park J.T., Brugada R. et al. Dominantnegative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice // J. Clin. Invest. 1998. Vol. 102, N 8. P. 1498-1505. doi: 10.1172/JCI4088.
12. Tsybouleva N., Zhang L., Chen S., Patel R. et al. Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy // Circulation. 2004. Vol. 109, N 10. P. 1284-1291. doi: 10.1161/01.CIR.0000121426.43044.2B.
13. Lim D.S., Lutucuta S., Bachireddy P., Youker K. et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy // Circulation. 2001. Vol. 103, N 6. P. 789-791. doi: 10.1161/01.CIR.103.6.789.
14. Marian A.J., Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy // Circ. Res. 2017. Vol. 121, N 7. P. 749-770. doi: 10.1161/ CIRCRESAHA.117.311059.
15. Marian A.J., Senthil V., Chen S.N., Lombardi R. Antifibrotic effects of antioxidant N-acetylcysteine in a mouse model of human hypertrophic cardiomyopathy mutation // J. Am. Coll. Cardiol. 2006. Vol. 47, N 4. P. 827-834. doi: 10.1016/j.jacc.2005.10.041.
16. Ripoll-Vera T., Gamez J.M., Govea N., Gomez Y. et al. Clinical and prognostic profiles of cardiomyopathies caused by mutations in the troponin T gene // Rev. Esp. Cardiol. (Engl. ed.). 2016. Vol. 69, N 2. P. 149-158. doi: 10.1016/j.rec.2015.06.025.
17. Ferrantini C., Coppini R., Pioner J.M., Gentile F. et al. Pathogenesis of hypertrophic cardiomyopathy is mutation rather than disease specific: a comparison of the cardiac troponin T E163R and R92Q mouse models // J. Am. Heart Assoc. 2017. Vol. 6, N 7. pii: e005407. doi: 10.1161/JAHA.116.005407.
18. Coppini R., Ferrantini C., Poggesi C., Mugelli A. et al. Molecular targets and novel pharmacological options to prevent myocardial hypertrophic remodeling // G. Ital. Cardiol. (Rome). 2016. Vol. 17, N 3. P. 189-196. doi: 10.1714/2190.23660.
19. Coppini R., Mazzoni L., Ferrantini C., Gentile F. et al. Ranolazine prevents phenotype development in a mouse model of hypertrophic cardiomyopathy // Circ. Heart Fail. 2017. Vol. 10, N 3. pii: e003565. doi: 10.1161/CIRCHEARTFAILURE.116.003565.
20. Smith G.L., Eisner D.A. Calcium buffering in the heart in health and disease // Circulation. 2019. Vol. 139, N 20. P. 23582371. doi: 10.1161/CIRCULATIONAHA.118.039329.
21. Kamisago M., Sharma S.D., DePalma S.R., Solomon S. et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy // N. Engl. J. Med. 2000. Vol. 343, N 23. P. 16881696. doi: 10.1056/NEJM200012073432304.
22. Willott R.H., Gomes A.V., Chang A.N., Parvatiyar M.S. et al. Mutations in troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? // J. Mol. Cell. Cardiol. 2010. Vol. 48, N 5. P. 882-892. doi: 10.1016/j.yjmcc.2009.10.031.
23. Yamamoto K., Ikeda U., Furuhashi K., Irokawa M. et al. The coagulation system is activated in idiopathic cardiomyopathy // J. Am. Coll. Cardiol. 1995. Vol. 25, N 7. P. 1634-1640. doi: 10.1016/0735-1097(95)00049-A.
24. Ito K., Date T., Ikegami M., Hongo K. et al. An immunohistochemical analysis of tissue thrombin expression in the human atria // PLoS One. 2013. Vol. 8, N 6. Article ID e65817. doi: 10.1371/journal.pone.0065817.
25. Ito K., Hongo K., Date T., Ikegami M. et al. Tissue thrombin is associated with the pathogenesis of dilated cardiomyopathy // Int. J. Cardiol. 2017. Vol. 228. P. 821-827. doi: 10.1016/j. ijcard.2016.11.176.
26. Katrukha I.A., Kogan A. E., Vylegzhanina A.V., Serebryakova M.V. et al. Thrombin-mediated degradation of human cardiac troponin T // Clin. Chem. 2017. Vol. 63, N 6. P. 1094-1100. doi: 10.1373/clinchem.2016.266635.
27. Peddy S.B., Vricella L.A., Crosson J.E., Oswald G.L. et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene // Pediatrics. 2006. Vol. 117, N 5. P. 18301833. doi: 10.1542/peds.2005-2301.
28. Pinto J.R., Parvatiyar M.S., Jones M.A., Liang J. et al. A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin // J. Biol. Chem. 2008. Vol. 283, N 4. P. 2156-2166. doi: 10.1074/jbc.M707066200.
29. Pinto J.R., Yang S.W., Hitz M.P., Parvatiyar M.S. et al. Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach // J. Biol. Chem. 2011. Vol. 286, N 23. P. 20 901-20 912. doi: 10.1074/jbc.M111.234336.
30. Solaro R.J., Rosevear P., Kobayashi T. The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation // Biochem. Biophys. Res. Commun. 2008. Vol. 369, N 1. P. 82-87. doi: 10.1016/j.bbrc.2007.12.114.
31. Kimura A., Harada H., Park J.E., Nishi H. et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy // Nat. Genet. 1997. Vol. 16, N 4. P. 379-382. doi: 10.1038/ng0897-379.
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33. Wen Y., Pinto J.R., Gomes A.V., Xu Y. et al. Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice // J. Biol. Chem. 2008. Vol. 283, N 29. P. 20 484-20 494. doi: 10.1074/jbc. M801661200.
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35. Ющенко М.В., Шляхто Е.В., Новик ГА., Костарева А.А., Гудкова А.Я. Особенности течения кардиомиопатий, обусловленных мутациямигена тропонина I // Артериал. гипертензия. 2009. Т. 16, № 6. С. 648-651.
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42. Davies M.J., McKenna W.J. Hypertrophic cardiomyopathy -pathology and pathogenesis // Histopathology. 1995. Vol. 26, N 6. P. 493-500. URL: https://doi.org/10.111Vj.1365-2559.1995. tb00267.x.
43. Mavrogeni S.I., Tsarouhas K., Spandidos D.A., Kanaka-Gantenbein C. et al. Sudden cardiac death in football players: towards a new pre-participation algorithm // Exp. Ther. Med. 2019. Vol. 17, N 2. P. 1143-1148. doi: 10.3892/etm.2018.7041.
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References
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2. Seidman C.E., Seidman J.G. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res. 2011; 108 (6): 743 - 50. doi: 10.1161/CIRCRESAHA.110.223834.
3. Dec G.W., Fuster V. Idiopathic dilated cardiomyopathy. N Engl J Med. 1994; 331 (23): 1564-75. doi: 10.1056/ NEJM199412083312307.
4. Rivenes S.M., Kearney D.L., Smith E.O., Towbin J.A., et al. Sudden death and cardiovascular collapse in children with restrictive cardiomyopathy. Circulation. 2000; 102 (8): 876-82. URL: https://doi. org/10.1161/01.CIR.102.8.876.
5. Hamilton R.M. Arrhythmogenic right ventricular cardiomyopathy. Pacing Clin Electrophysiol. 2009; 32 (suppl 2): S44-51. doi: 10.1111/j.1540-8159.2009.02384.x.
6. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., Vosberg H.P., et al. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990; 62 (5): 999-1006. URL: https://doi.org/10.1016/00 92-8 6 74(90)9 0274-I.
7. Kobayashi T., Solaro R.J. Calcium, thin filaments, and the integrative biology of cardiac contractility. Annu Rev Physiol. 2005; 67: 39-67. doi: 10.1146/annurev.physiol.67.040403.114025.
8. Franklin A.J., Baxley T., Kobayashi T., Chalovich J.M. The C-terminus of troponin T is essential for maintaining the inactive state of regulated actin. Biophys J. 2012; 102 (11): 2536-44. doi: 10.1016/j. bpj.2012.04.037.
9. Thierfelder L., Watkins H., MacRae C., Lamas R., et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell. 1994; 77 (5): 701-12. URL: https://doi.org/10.1016/0 0 9 2-86 74(94)9 0 0 54-X
10. Pasquale F., Syrris P., Kaski J.P., Mogensen J., et al. Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene. Circ Cardiovasc Genet. 2012; 5 (1): 10-7. doi: 10.1161/CIRCGENETICS.111.959973.
11. Oberst L., Zhao G., Park J.T., Brugada R., et al. Dominantnegative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. J Clin Invest. 1998; 102 (8): 1498-505. doi: 10.1172/JCI4088.
12. Tsybouleva N., Zhang L., Chen S., Patel R., et al. Aldosterone, through novel signaling proteins, is a fundamental molecular bridge between the genetic defect and the cardiac phenotype of hypertrophic cardiomyopathy. Circulation. 2004; 109 (10): 1284-91. doi: 10.1161/01.CIR.0000121426.43044.2B.
13. Lim D.S., Lutucuta S., Bachireddy P., Youker K., et al. Angiotensin II blockade reverses myocardial fibrosis in a transgenic mouse model of human hypertrophic cardiomyopathy. Circulation. 2001; 103 (6): 78991. doi: 10.1161/01.CIR.103.6.789.
14. Marian A.J., Braunwald E. Hypertrophic cardiomyopathy: genetics, pathogenesis, clinical manifestations, diagnosis, and therapy. Circ Res. 2017; 121 (7): 749-70. doi: 10.1161/ CIRCRESAHA.117.311059.
15. Marian A.J., Senthil V., Chen S.N., Lombardi R. Antifibrotic effects of antioxidant N-acetylcysteine in a mouse model of human hypertrophic cardiomyopathy mutation. J Am Coll Cardiol. 2006; 47 (4): 827-34. doi: 10.1016/j.jacc.2005.10.041.
16. Ripoll-Vera T., Gamez J.M., Govea N., Gomez Y., et al. Clinical and prognostic profiles of cardiomyopathies caused by mutations in the troponin T gene. Rev Esp Cardiol (Engl ed). 2016; 69 (2): 149-58. doi: 10.1016/j.rec.2015.06.025.
17. Ferrantini C., Coppini R., Pioner J.M., Gentile F., et al. Pathogenesis of hypertrophic cardiomyopathy is mutation rather than disease specific: a comparison of the cardiac troponin T E163R and R92Q mouse models. J Am Heart Assoc. 2017; 6 (7). pii: e005407. doi: 10.1161/JAHA.116.005407.
18. Coppini R., Ferrantini C., Poggesi C., Mugelli A., et al. Molecular targets and novel pharmacological options to prevent myocardial hypertrophic remodeling. G Ital Cardiol (Rome). 2016; 17 (3): 189-96. doi: 10.1714/2190.23660.
19. Coppini R., Mazzoni L., Ferrantini C., Gentile F., et al. Ranolazine prevents phenotype development in a mouse model of hypertrophic cardiomyopathy. Circ Heart Fail. 2017; 10 (3). pii: e003565. doi: 10.1161/CIRCHEARTFAILURE.116.003565.
20. Smith G.L., Eisner D.A. Calcium buffering in the heart in health and disease. Circulation. 2019; 139 (20): 2358-71. doi: 10.1161/ CIRCULATIONAHA.118.039329.
21. Kamisago M., Sharma S.D., DePalma S.R., Solomon S., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000; 343 (23): 1688-96. doi: 10.1056/NEJM200012073432304.
22. Willott R.H., Gomes A.V., Chang A.N., Parvatiyar M.S., et al. Mutations in troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function? J Mol Cell Cardiol. 2010; 48 (5): 882-92. doi: 10.1016/j.yjmcc.2009.10.031.
23. Yamamoto K., Ikeda U., Furuhashi K., Irokawa M., et al. The coagulation system is activated in idiopathic cardiomyopathy. J Am Coll Cardiol. 1995; 25 (7): 1634-40. doi: 10.1016/0735-1097(95)00049-A.
24. Ito K., Date T., Ikegami M., Hongo K., et al. An immunohistochemical analysis of tissue thrombin expression in the human atria. PLoS One. 2013; 8 (6): e65817. doi: 10.1371/journal. pone.0065817.
25. Ito K., Hongo K., Date T., Ikegami M., et al. Tissue thrombin is associated with the pathogenesis of dilated cardiomyopathy. Int J Cardiol. 2017; 228: 821-7. doi: 10.1016/j.ijcard.2016.11.176.
26. Katrukha I.A., Kogan A. E., Vylegzhanina A.V., Serebryakova M.V., et al. Thrombin-mediated degradation of human cardiac troponin T. Clin Chem. 2017; 63 (6): 1094-100. doi: 10.1373/clinchem.2016.266635.
27. Peddy S.B., Vricella L.A., Crosson J.E., Oswald G.L., et al. Infantile restrictive cardiomyopathy resulting from a mutation in the cardiac troponin T gene. Pediatrics. 2006; 117 (5): 1830-3. doi: 10.1542/ peds.2005-2301.
28. Pinto J.R., Parvatiyar M.S., Jones M.A., Liang J., et al. A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin. J Biol Chem. 2008; 283 (4): 2156-66. doi: 10.1074/jbc. M707066200.
29. Pinto J.R., Yang S.W., Hitz M.P., Parvatiyar M.S., et al. Fetal cardiac troponin isoforms rescue the increased Ca2+ sensitivity produced by a novel double deletion in cardiac troponin T linked to restrictive cardiomyopathy: a clinical, genetic, and functional approach. J Biol Chem. 2011; 286 (23): 20 901-12. doi: 10.1074/jbc.M111.234336.
30. Solaro R.J., Rosevear P., Kobayashi T. The unique functions of cardiac troponin I in the control of cardiac muscle contraction and relaxation. Biochem Biophys Res Commun. 2008; 369 (1): 82-7. doi: 10.1016/j.bbrc.2007.12.114.
31. Kimura A., Harada H., Park J.E., Nishi H., et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat Genet. 1997; 16 (4): 379-82. doi: 10.1038/ng0897-379.
32. Kokado H., Shimizu M., Yoshio H., Ino H., et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation. 2000; 102 (6): 663-9. doi: 10.1161/01.CIR.102.6.663.
33. Wen Y., Pinto J.R., Gomes A.V., Xu Y., et al. Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice. J Biol Chem. 2008; 283 (29): 20 484-94. doi: 10.1074/jbc.M801661200.
34. Mogensen J., Murphy R.T., Kubo T., Bahl A., et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 44 (12): 2315-25. doi: 10.1016/j.jacc.2004.05.088.
35. Yuschenko M.V., Shlyakhto E.V., Novik G.A., Kostareva A.A., et al. Features of the course of cardiomyopathies caused by mutations of the troponin I gene. Arterial’naya gipertenziya [Arterial Hypertension]. 2009; 16 (6): 648-51. (in Russian)
36. Doolan A., Tebo M., Ingles J., Nguyen L., et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences. J Mol Cell Cardiol. 2005; 38 (2): 387-93. doi: 10.1016/j.yjmcc.2004.12.006.
37. Kawai H., Morimoto S., Takakuwa Y., Ueda A., et al. Hypertrophic cardiomyopathy accompanied by spinocerebellar atrophy with a novel mutation in troponin I gene. Int Heart J. 2016; 57 (4): 507-10. doi: 10.1536/ihj.15-444.
38. Flacke S.J., Fischer S.E., Lorenz C.H. Measurement of the gadopentetate dimeglumine partition coefficient in human myocardium in vivo: normal distribution and elevation in acute and chronic infarction. Radiology. 2001; 218 (3): 703-10. doi: 10.1148/ radiology.218.3.r01fe18703.
39. Moon J.C., Reed E., Sheppard M.N., Elkington A.G., et al. The histologic basis of late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 43 (12): 2260-4. doi: 10.1016/j.jacc.2004.03.035.
40. Moon J.C., Mogensen J., Elliott P.M., Smith G.C., et al. Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I. Heart. 2005; 91 (8): 1036-40. doi: 10.1136/hrt.2004.041384.
41. Varnava A.M., Elliott P.M., Sharma S., McKenna W.J., et al. Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease. Heart. 2000; 84 (5): 476-82. doi: 10.1136/ heart.84.5.476.
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