Гипертрофическая кардиомиопатия: современный взгляд на проблему
Гипертрофическая кардиомиопатия: современный взгляд на проблему
Алиева А.М., Алмазова И.И., Резник Е.В. и др. Гипертрофическая кардиомиопатия: современный взгляд на проблему. CardioСоматика. 2020; 11 (1): 40–46. DOI: 10.26442/22217185.2020.1.200116
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Аннотация
Гипертрофическая кардиомиопатия (ГКМП) является наиболее распространенным генетическим заболеванием сердца, распространенность которого среди взрослой когорты населения составляет примерно 1 на 500. Это распространенный этиологический фактор внезапной сердечной смерти у молодых и распространенная причина заболеваемости и смертности во всех возрастных группах. ГКМП характеризуется сложной патофизиологией, которая проявляется неоднородной клинической картиной. До конца не понятен механизм развития данного варианта гипертрофии. В настоящее время идентифицирована лишь часть генетических мутаций, коррелирующих с развитием данной патологии.
В связи с этим весьма актуальным является вопрос генетической диагностики ГКМП, так как это даст нам возможность проводить расширенный скрининг. Весьма важной задачей является разработка персонифицированного подхода в консервативном и хирургическом лечении людей, страдающих этим вариантом кардиопатии.
Ключевые слова: гипертрофическая кардиомиопатия, эхокардиография, внезапная сердечная смерть, межжелудочковая перегородка.
500 among the adult cohort. It is a common etiological factor of sudden cardiac death in the young and a common cause of morbidity and mortality in all age groups. HCM is characterized by a complex pathophysiology, which is manifested by a heterogeneous clinical picture. The mechanism of development of this variant of hypertrophy is not fully understood. Currently, only a part of the genetic mutations that correlate with the development of this pathology has been identified. In this regard, the issue of genetic diagnosis of HCM is very relevant, as it will allow us to conduct advanced screening. A very important task is to develop a personalized approach in the conservative and surgical treatment of people suffering from this variant of cardiopathy.
Key words: hypertrophic cardiomyopathy, echocardiography, sudden cardiac death, interventricular septum.
В связи с этим весьма актуальным является вопрос генетической диагностики ГКМП, так как это даст нам возможность проводить расширенный скрининг. Весьма важной задачей является разработка персонифицированного подхода в консервативном и хирургическом лечении людей, страдающих этим вариантом кардиопатии.
Ключевые слова: гипертрофическая кардиомиопатия, эхокардиография, внезапная сердечная смерть, межжелудочковая перегородка.
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500 among the adult cohort. It is a common etiological factor of sudden cardiac death in the young and a common cause of morbidity and mortality in all age groups. HCM is characterized by a complex pathophysiology, which is manifested by a heterogeneous clinical picture. The mechanism of development of this variant of hypertrophy is not fully understood. Currently, only a part of the genetic mutations that correlate with the development of this pathology has been identified. In this regard, the issue of genetic diagnosis of HCM is very relevant, as it will allow us to conduct advanced screening. A very important task is to develop a personalized approach in the conservative and surgical treatment of people suffering from this variant of cardiopathy.
Key words: hypertrophic cardiomyopathy, echocardiography, sudden cardiac death, interventricular septum.
Список литературы
1. Maron BJ. Clinical Course and Management of Hypertrophic Cardiomyopathy. N Engl J Med 2018; 379 (7): 655–68. DOI: 10.1056/NEJMra1710575
2. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2733–9. DOI: 10.1093/eurheartj/ehu284
3. Bonne G. Familial Hypertrophic Cardiomyopathy: from mutations to functional defect. Circulation Res 1998; 83: 580–9.
4. Engel TR. Diagnosis of Hypertrophic Cardiomyopathy: Who Is in Charge Here-The Physician or the Computer? J Am Coll Cardiol 2020; 75 (7): 734–5. DOI: 10.1016/j.jacc.2019.12.028
5. Shah M. Hypertrophic cardiomyopathy. Cardiol Young 2017; 27 (S1): S25–S30. DOI: 10.1017/S1047951116002195
6. Maron BJ, Spirito P, Roman MJ et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol 2004; 93: 1510–4. DOI: 10.1016/j.amjcard.2004.03.007
7. Ng CT, Chee TS, Ling LF et al. Prevalence of hypertrophic cardiomyopathy on an electrocardiogram-based pre-participation screening programme in a young male South-East Asian population: results from the Singapore Armed Forces Electrocardiogram and Echocardiogram screening protocol. Europace 2011; 13: 883–8. DOI: 10.1093/europace/eur051
8. Jaaskelainen P, Vangipurapu J, Raivo J et al. Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. ESC Heart Fail 2019; 6 (2): 436–45. DOI: 10.1002/ehf2.12420
9. Sukhacheva TV, Serov RA, Bockeria LA. Hypertrophic cardiomyopathy. Cardiomyocyte ultrastructure, the specific or stereotypic signs. Arkh Patol 2019; 81 (6): 5–15. DOI: 10.17116/patol2019810615
10. Wolf CM. Hypertrophic cardiomyopathy: genetics and clinical perspectives. Cardiovasc Diagn Ther 2019; 9 (Suppl. 2): 388–S415. DOI: 10.21037/cdt.2019.02.01
11. Seidman CE, Seidman JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history. Circ Res 2011; 108: 743–50. DOI: 10.1161/CIRCRESAHA.110.223834
12. Teekakirikul P, Kelly MA, Rehm HL et al. Inherited cardiomyopathies: Molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagnostics 2013; 15: 158–70. DOI: 10.1016/j.jmoldx.2012.09.002
13. Walsh R, Thomson KL, Ware JS et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med 2017; 19: 192–203. DOI: 10.1038/gim.2016.90
14. Alfares AA, Kelly MA, McDermott G et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med 2015; 17 (11): 880–8. DOI: 10.1038/gim.2014.205
15. Chiu C, Bagnall RD, Ingles J et al. Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy. A Genome-Wide Analysis. Am Coll Cardiol 2010; 55 (11): 1127–35. DOI: 10.1016/j.jacc.2009.11.016
16. Friedrich FW, Wilding BR, Reischmann S et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet 2012; 21: 3237–54. DOI: 10.1093/hmg/dds157
17. Landstrom AP, Adekola BA, Bos JM et al. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing. Am Heart J 2011; 161: 165–71. DOI: 10.1016/j.ahj.2010.08.001
18. Landstrom AP, Ackerman MJ. Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy – Associated Mutations in Genes that Encode Calcium-Handling Proteins. Curr Mol Med 2012; 12: 507–18. DOI: 10.2174/156652412800620020
19. Wigle ED, Rakowsky H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation 1995; 92: 1680–92.
20. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2011; 25: 212–60. DOI: 10.1016/j.jtcvs.2011.10.020
21. Sherrid MV, Chaudhry FA, Swistel DG. Obstructive hypertrophic cardiomyopathy: Echocardiography, pathophysiology, and the continuing evolution of surgery for obstruction. Ann Thorac Surg 2003; 75: 620–32. DOI: 10.1016/s0003-4975(02)0454600
22. Каплунова В.Ю., Шакарьянц Г.А., Кожевникова М.В. и др. Современные подходы к проблеме гипертрофической кардиомиопатии. Клин. медицина. 2016; 94 (10): 754–63. DOI: http://dx.doi.org/10.18821/0023-2149-2016-94-10-754-763
[Kaplunova V.Iu., Shakar'iants G.A., Kozhevnikova M.V. et al. Sovremennye podkhody k probleme gipertroficheskoi kardiomiopatii. Klin. meditsina. 2016; 94 (10): 754–63. DOI: http://dx.doi.org/10.18821/0023-2149-2016-94-10-754-763 (in Russian).]
23. Imori Y, Takano H, Mase H et al. Bisoprolol transdermal patch for perioperative care of non-cardiac surgery in patients with hypertrophic obstructive cardiomyopathy. BMC Cardiovasc Disord 2019; 19 (1): 316. DOI: 10.1186/s12872-019-01274-6
24. Larkin G, Bellomo T, Caze L. Hypertrophic cardiomyopathy: New hope for an old disease. Nursing 2019; 49 (9): 24–31. DOI: 10.1097/01.NURSE.0000577688.41805.80
25. Fumagalli C, De Gregorio MG, Zampieri M et al. Targeted Medical Therapies for Hypertrophic Cardiomyopathy. Curr Cardiol Rep 2020; 22 (2): 10. DOI: 10.1007/s11886-020-1258-x
26. Tuohy CV, Kaul S, Song HK et al. Hypertrophic cardiomyopathy: the future of treatment. Eur J Heart Fail 2020; 22 (2): 228–40. DOI: 10.1002/ejhf.1715
27. Thompson BR, Martindale J, Metzger JM. Sarcomere neutralization in inherited cardiomyopathy: small-molecule proof-of-concept to correct hyper-Ca2+-sensitive myofilaments. Am J Physiol Heart Circ Physiol 2016; 311 (1): 36–43. DOI: 10.1152/ajpheart.00981.2015
28. Chen CH, Lin JW, Huang CY et al. The combined inhibition of the CaMKIIδ and calcineurin signaling cascade attenuates IGF-IIR-induced cardiac hypertrophy. J Cell Physiol 2020; 235 (4): 3539–47. DOI: 10.1002/jcp.29242
29. Flenner F, Geertz B, Reischmann-Dusener S et al. Diltiazem prevents stress-induced contractile deficits in cardiomyocytes, but does not reverse the cardiomyopathy phenotype in Mybpc3-knock-in mice. J Physiol 2017; 595 (12): 3987–99. DOI: 10.1113/JP273769
30. Larkin G, Bellomo T, Caze L. Hypertrophic cardiomyopathy: New hope for an old disease. Nursing 2019; 49 (9): 24–31. DOI: 10.1097/01.NURSE.0000577688.41805.80
31. Tuohy CV, Kaul S, Song HK et al. Hypertrophic cardiomyopathy: the future of treatment. Eur J Heart Fail 2020; 22 (2): 228–40. DOI: 10.1002/ejhf.1715
32. Philipson DJ, De Pasquale EC, Yang EH, Baas AS. Emerging pharmacologic and structural therapies for hypertrophic cardiomyopathy. Heart Fail Rev 2017; 22 (6): 879–88. DOI: 10.1007/s10741-0179648-x
33. Николаева И.Е., Плечев В.В., Мухаметьянов А.М. и др. Cпиртовая септальная абляция при гипертрофической кардиомиопатии с обструкцией выходного тракта левого желудочка под контролем контрастной эхокардиографии. Креативная хирургия и онкология. 2019; 9 (2): 132–7. doi.org/10.24060/2076-3093-2019-9-2-132-137
[Nikolaeva I.E., Plechev V.V., Mukhamet'ianov A.M. i dr. Cpirtovaia septal'naia abliatsiia pri gipertroficheskoĭ kardiomiopatii s obstruktsieĭ vykhodnogo trakta levogo zheludochka pod kontrolem kontrastnoĭ ekhokardiografii. Kreativnaia khirurgiia i onkologiia. 2019; 9 (2): 132–7. doi.org/10.24060/2076-3093-2019-9-2-132-137 (in Russian).]
34. Клинические рекомендации Министерства здравоохранения Российской Федерации от 2016 г. Гипертрофическая кардиомиопатия. Год утверждения: 2016 (пересмотр каждые 3 года).
[Klinicheskie rekomendatsii Ministerstva zdravookhraneniia Rossiiskoi Federatsii ot 2016 g. Gipertroficheskaia kardiomiopatiia. God utverzhdeniia: 2016 (peresmotr kazhdye 3 goda) (in Russian).]
35. Orme NM, Sorajja P, Dearani JA et al. Comparison of surgical septal myectomy to medical therapy alone in patients with hypertrophic cardiomyopathy and syncope. Am J Cardiol 2013; 111: 388–92. DOI: 10.1016/j.amjcard.2012.10.014
________________________________________________
2. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy. The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014; 35: 2733–9. DOI: 10.1093/eurheartj/ehu284
3. Bonne G. Familial Hypertrophic Cardiomyopathy: from mutations to functional defect. Circulation Res 1998; 83: 580–9.
4. Engel TR. Diagnosis of Hypertrophic Cardiomyopathy: Who Is in Charge Here-The Physician or the Computer? J Am Coll Cardiol 2020; 75 (7): 734–5. DOI: 10.1016/j.jacc.2019.12.028
5. Shah M. Hypertrophic cardiomyopathy. Cardiol Young 2017; 27 (S1): S25–S30. DOI: 10.1017/S1047951116002195
6. Maron BJ, Spirito P, Roman MJ et al. Prevalence of hypertrophic cardiomyopathy in a population-based sample of American Indians aged 51 to 77 years (the Strong Heart Study). Am J Cardiol 2004; 93: 1510–4. DOI: 10.1016/j.amjcard.2004.03.007
7. Ng CT, Chee TS, Ling LF et al. Prevalence of hypertrophic cardiomyopathy on an electrocardiogram-based pre-participation screening programme in a young male South-East Asian population: results from the Singapore Armed Forces Electrocardiogram and Echocardiogram screening protocol. Europace 2011; 13: 883–8. DOI: 10.1093/europace/eur051
8. Jaaskelainen P, Vangipurapu J, Raivo J et al. Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. ESC Heart Fail 2019; 6 (2): 436–45. DOI: 10.1002/ehf2.12420
9. Sukhacheva TV, Serov RA, Bockeria LA. Hypertrophic cardiomyopathy. Cardiomyocyte ultrastructure, the specific or stereotypic signs. Arkh Patol 2019; 81 (6): 5–15. DOI: 10.17116/patol2019810615
10. Wolf CM. Hypertrophic cardiomyopathy: genetics and clinical perspectives. Cardiovasc Diagn Ther 2019; 9 (Suppl. 2): 388–S415. DOI: 10.21037/cdt.2019.02.01
11. Seidman CE, Seidman JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history. Circ Res 2011; 108: 743–50. DOI: 10.1161/CIRCRESAHA.110.223834
12. Teekakirikul P, Kelly MA, Rehm HL et al. Inherited cardiomyopathies: Molecular genetics and clinical genetic testing in the postgenomic era. J Mol Diagnostics 2013; 15: 158–70. DOI: 10.1016/j.jmoldx.2012.09.002
13. Walsh R, Thomson KL, Ware JS et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med 2017; 19: 192–203. DOI: 10.1038/gim.2016.90
14. Alfares AA, Kelly MA, McDermott G et al. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med 2015; 17 (11): 880–8. DOI: 10.1038/gim.2014.205
15. Chiu C, Bagnall RD, Ingles J et al. Mutations in Alpha-Actinin-2 Cause Hypertrophic Cardiomyopathy. A Genome-Wide Analysis. Am Coll Cardiol 2010; 55 (11): 1127–35. DOI: 10.1016/j.jacc.2009.11.016
16. Friedrich FW, Wilding BR, Reischmann S et al. Evidence for FHL1 as a novel disease gene for isolated hypertrophic cardiomyopathy. Hum Mol Genet 2012; 21: 3237–54. DOI: 10.1093/hmg/dds157
17. Landstrom AP, Adekola BA, Bos JM et al. PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: Summary of the literature and implications for genetic testing. Am Heart J 2011; 161: 165–71. DOI: 10.1016/j.ahj.2010.08.001
18. Landstrom AP, Ackerman MJ. Beyond the Cardiac Myofilament: Hypertrophic Cardiomyopathy – Associated Mutations in Genes that Encode Calcium-Handling Proteins. Curr Mol Med 2012; 12: 507–18. DOI: 10.2174/156652412800620020
19. Wigle ED, Rakowsky H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation 1995; 92: 1680–92.
20. 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology Foundation/ American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2011; 25: 212–60. DOI: 10.1016/j.jtcvs.2011.10.020
21. Sherrid MV, Chaudhry FA, Swistel DG. Obstructive hypertrophic cardiomyopathy: Echocardiography, pathophysiology, and the continuing evolution of surgery for obstruction. Ann Thorac Surg 2003; 75: 620–32. DOI: 10.1016/s0003-4975(02)0454600
22. Kaplunova V.Iu., Shakar'iants G.A., Kozhevnikova M.V. et al. Sovremennye podkhody k probleme gipertroficheskoi kardiomiopatii. Klin. meditsina. 2016; 94 (10): 754–63. DOI: http://dx.doi.org/10.18821/0023-2149-2016-94-10-754-763 (in Russian).
23. Imori Y, Takano H, Mase H et al. Bisoprolol transdermal patch for perioperative care of non-cardiac surgery in patients with hypertrophic obstructive cardiomyopathy. BMC Cardiovasc Disord 2019; 19 (1): 316. DOI: 10.1186/s12872-019-01274-6
24. Larkin G, Bellomo T, Caze L. Hypertrophic cardiomyopathy: New hope for an old disease. Nursing 2019; 49 (9): 24–31. DOI: 10.1097/01.NURSE.0000577688.41805.80
25. Fumagalli C, De Gregorio MG, Zampieri M et al. Targeted Medical Therapies for Hypertrophic Cardiomyopathy. Curr Cardiol Rep 2020; 22 (2): 10. DOI: 10.1007/s11886-020-1258-x
26. Tuohy CV, Kaul S, Song HK et al. Hypertrophic cardiomyopathy: the future of treatment. Eur J Heart Fail 2020; 22 (2): 228–40. DOI: 10.1002/ejhf.1715
27. Thompson BR, Martindale J, Metzger JM. Sarcomere neutralization in inherited cardiomyopathy: small-molecule proof-of-concept to correct hyper-Ca2+-sensitive myofilaments. Am J Physiol Heart Circ Physiol 2016; 311 (1): 36–43. DOI: 10.1152/ajpheart.00981.2015
28. Chen CH, Lin JW, Huang CY et al. The combined inhibition of the CaMKIIδ and calcineurin signaling cascade attenuates IGF-IIR-induced cardiac hypertrophy. J Cell Physiol 2020; 235 (4): 3539–47. DOI: 10.1002/jcp.29242
29. Flenner F, Geertz B, Reischmann-Dusener S et al. Diltiazem prevents stress-induced contractile deficits in cardiomyocytes, but does not reverse the cardiomyopathy phenotype in Mybpc3-knock-in mice. J Physiol 2017; 595 (12): 3987–99. DOI: 10.1113/JP273769
30. Larkin G, Bellomo T, Caze L. Hypertrophic cardiomyopathy: New hope for an old disease. Nursing 2019; 49 (9): 24–31. DOI: 10.1097/01.NURSE.0000577688.41805.80
31. Tuohy CV, Kaul S, Song HK et al. Hypertrophic cardiomyopathy: the future of treatment. Eur J Heart Fail 2020; 22 (2): 228–40. DOI: 10.1002/ejhf.1715
32. Philipson DJ, De Pasquale EC, Yang EH, Baas AS. Emerging pharmacologic and structural therapies for hypertrophic cardiomyopathy. Heart Fail Rev 2017; 22 (6): 879–88. DOI: 10.1007/s10741-0179648-x
33. Nikolaeva I.E., Plechev V.V., Mukhamet'ianov A.M. i dr. Cpirtovaia septal'naia abliatsiia pri gipertroficheskoĭ kardiomiopatii s obstruktsieĭ vykhodnogo trakta levogo zheludochka pod kontrolem kontrastnoĭ ekhokardiografii. Kreativnaia khirurgiia i onkologiia. 2019; 9 (2): 132–7. doi.org/10.24060/2076-3093-2019-9-2-132-137 (in Russian).
34. Klinicheskie rekomendatsii Ministerstva zdravookhraneniia Rossiiskoi Federatsii ot 2016 g. Gipertroficheskaia kardiomiopatiia. God utverzhdeniia: 2016 (peresmotr kazhdye 3 goda) (in Russian).
35. Orme NM, Sorajja P, Dearani JA et al. Comparison of surgical septal myectomy to medical therapy alone in patients with hypertrophic cardiomyopathy and syncope. Am J Cardiol 2013; 111: 388–92. DOI: 10.1016/j.amjcard.2012.10.014
Авторы
А.М. Алиева*1, И.И. Алмазова2, Е.В. Резник1, Т.В. Пинчук1, И.Е. Байкова1, В.А. Кисляков1, В.И. Светлаков1, И.В. Ковтюх3, С.А. Корвяков3, А.М. Рахаев4, И.Г. Никитин1
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
2 ФГБУ «Национальный медицинский исследовательский центр терапии и профилактической медицины» Минздрава России, Москва, Россия;
3 ФГБУЗ «Центральная клиническая больница РАН», Москва, Россия;
4 ФКУ «Главное бюро медико-социальной экспертизы по Кабардино-Балкарской Республике» Минтруда России, Нальчик, Россия
*amisha_alieva@mail.ru
1 Pirogov Russian National Research Medical University, Moscow, Russia;
2 National Medical Research Center for Therapy and Preventive Medicine, Moscow, Russia;
3 Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russia;
4 Main Bureau of Medical and Social Expertise in the Kabardino-Balkarian Republic, Nalchik, Russia
*amisha_alieva@mail.ru
1 ФГБОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
2 ФГБУ «Национальный медицинский исследовательский центр терапии и профилактической медицины» Минздрава России, Москва, Россия;
3 ФГБУЗ «Центральная клиническая больница РАН», Москва, Россия;
4 ФКУ «Главное бюро медико-социальной экспертизы по Кабардино-Балкарской Республике» Минтруда России, Нальчик, Россия
*amisha_alieva@mail.ru
________________________________________________
1 Pirogov Russian National Research Medical University, Moscow, Russia;
2 National Medical Research Center for Therapy and Preventive Medicine, Moscow, Russia;
3 Central Clinical Hospital of the Russian Academy of Sciences, Moscow, Russia;
4 Main Bureau of Medical and Social Expertise in the Kabardino-Balkarian Republic, Nalchik, Russia
*amisha_alieva@mail.ru
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