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Синдром Барта у взрослого пациента: обзор проблемы и описание клинического случая
Муксинова М.Д., Осмоловская Ю.Ф., Леонтьева И.В., Галаева М.А., Стукалова О.В., Бениашвили А.Г., Сафиуллина А.А., Жиров И.В., Терещенко С.Н. Синдром Барта у взрослого пациента: обзор проблемы и описание клинического случая. Терапевтический архив. 2024;96(8):812–819.
DOI: 10.26442/00403660.2024.08.202815
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
DOI: 10.26442/00403660.2024.08.202815
© ООО «КОНСИЛИУМ МЕДИКУМ», 2024 г.
________________________________________________
Muksinova MD, Osmolovskaya YuF, Leontyeva IV, Galaeva MA, Stukalova OV, Beniashvili AG, Safiullina AA, Zhirov IV, Tereshchenko SN. Barth syndrome in an adult patient: an overview of the problem and case report. A review. Terapevticheskii Arkhiv (Ter. Arkh.). 2024;96(8):812–819. DOI: 10.26442/00403660.2024.08.202815
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Аннотация
Синдром Барта – редкое генетическое заболевание, вызванное аномальным метаболизмом кардиолипина, характеризующееся высокой смертностью в течение 5 лет от постановки диагноза в связи с сердечной недостаточностью и/или инфекционными осложнениями. В статье представлен клинический случай взрослого пациента c синдромом Барта. Описываются особенности течения заболевания, в том числе и трансформация гипертрофического типа кардиомиопатии в гипокинетический тип на фоне взросления этого пациента. В данной статье демонстрируется сложность в подборе оптимального лечения пациента с синдромом Барта в реальной клинической практике в условиях отсутствия четко прописанных рекомендаций и патогенетической терапии.
Ключевые слова: синдром Барта, кардиомиопатия, взрослый пациент, орфанное заболевание
Ключевые слова: синдром Барта, кардиомиопатия, взрослый пациент, орфанное заболевание
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Barth syndrome is a rare genetic disease caused by abnormal cardiolipin metabolism, characterized by high mortality within 5 years of diagnosis due to heart failure and/or infectious complications. This article describes a clinical case of an adult patient with Barth syndrome. The peculiarities of the course of the disease are described, including the transformation of the hypertrophic type of cardiomyopathy into the hypokinetic type as the patient grew older. This article demonstrates the difficulty in selecting the optimal treatment of a patient with Barth syndrome in real clinical practice, in the absence of clearly prescribed recommendations and pathogenetic therapy.
Keywords: Barth syndrome, cardiomyopathy, adult patient, orphan disease
Полный текст
Список литературы
1. Miller PC, Ren M, Schlame M, et al. A bayesian analysis to determine the prevalence of Barth syndrome in the pediatric population. J Pediatr. 2020;217:139-44. DOI:10.1016/j.jpeds.2019.09.074
2. Rigaud C, Lebre A-S, Touraine R, et al. Natural history of Barth Syndrome: A national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8(1):70. DOI:10.1186/1750-1172-8-70
3. Bissler JJ, Tsoras M, Göring HH, et al. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Labor Investig. 2002;82(3):335-44. DOI:10.1038/labinvest.3780427
4. Acehan D, Malhotra A, Xu Y, et al. Cardiolipin affects the supramolecular organization of ATP synthase in mitochondria. Biophys J. 2011;100(9):2184-92. DOI:10.1016/j.bpj.2011.03.031
5. Houtkooper RH, Rodenburg RJ, Thiels C, et al. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome. Analytic Biochem. 2009;387(2):230-7. DOI:10.1016/j.ab.2009.01.032
6. Schlame M, Ren M. The role of Cardiolipin in the structural organization of mitochondrial membranes. Biochimica et Biophysica Acta (BBA) – Biomembranes.
2009;1788(10):2080-3. DOI:10.1016/j.bbamem.2009.04.019
7. Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in barth syndrome. Ann Neurol. 2002;51(5):634-7. DOI:10.1002/ana.10176
8. Klingenberg M. Cardiolipin and mitochondrial carriers. Biochimica et Biophysica Acta (BBA) – Biomembranes. 2009;1788(10):2048-58. DOI:10.1016/j.bbamem.2009.06.007
9. Cade WT, Bohnert KL, Peterson LR, et al. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with barth syndrome. J Inherit Metab Dis. 2019;42(3):480-93. DOI:10.1002/jimd.12094
10. Fatica EM, DeLeonibus GA, House A, et al. Barth syndrome: Exploring cardiac metabolism with induced pluripotent stem cell-derived cardiomyocytes. Metabolites. 2019;9(12):306. doi:10.3390/metabo9120306
11. Gonzalvez F, Gottlieb E. Cardiolipin: Setting the beat of apoptosis. Apoptosis. 2007;12(5):877-85. DOI:10.1007/s10495-007-0718-8
12. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Mol Genet Metab. 2012;106(1):115-20. DOI:10.1016/j.ymgme.2012.01.015
13. Kang S-L, Forsey J, Dudley D, et al. Clinical characteristics and outcomes of cardiomyopathy in Barth Syndrome: The UK experience. Pediatr Cardiol. 2015;37(1):167-76. DOI:10.1007/s00246-015-1260-z
14. Roberts AE, Nixon C, Steward CG, et al. The Barth Syndrome Registry: Distinguishing Disease Characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012;158A(11):2726-32. DOI:10.1002/ajmg.a.35609
15. Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical Laboratory Studies in Barth syndrome. Mol Genet Metab. 2014;112(2):143-7. DOI:10.1016/j.ymgme.2014.03.007
16. Jacob ML, Johnco C, Dane BF, et al. Psychosocial functioning in Barth Syndrome: Assessment of individual and Parental Adjustment. Children’s Health Care.
2015;46(1):66-92. DOI:10.1080/02739615.2015.1124768
17. Mazzocco MMM, Henry AE, Kelly RI. Barth syndrome is associated with a cognitive phenotype. J Development Behav Pediatr.
2007;28(1):22-30. DOI:10.1097/01.dbp.0000257519.79803.90
18. Raches D, Mazzocco MM. Emergence and nature of mathematical difficulties in young children with barth syndrome. J Development Behav Pediatr. 2012;33(4):328-35. DOI:10.1097/dbp.0b013e31824c4090
19. Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of Cardiomyopathies. Eur Heart J. 2023;44(37):3503-626. DOI:10.1093/eurheartj/ehad194
20. Терещенко С.Н., Галявич А.С., Ускач Т.М., и др. Хроническая сердечная недостаточность. Клинические рекомендации 2020. Российский кардиологический журнал. 2020;25(11):311-74 [Tereshchenko SN, Galyavich AS, Uskach TM, et al. 2020 Clinical practice guidelines for Chronic heart failure. Russian Journal of Cardiology. 2020;25(11):311-74 (in Russian)]. DOI:10.15829/1560-4071-2020-4083
21. Reynolds S. Successful Management of Barth Syndrome: A systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc. 2015:8:345-58. DOI:10.2147/jmdh.s54802
22. Lopaschuk GD, Verma S. Mechanisms of cardiovascular benefits of sodium glucose co-transporter 2 (SGLT2) inhibitors. JACC. 2020;5(6):632-44. DOI:10.1016/j.jacbts.2020.02.004
23. Sumegi B, Srere PA. Binding of the enzymes of fatty acid beta-oxidation and some related enzymes to pig heart inner mitochondrial membrane. J Biol Chem.
1984;259(14):8748-52. DOI:10.1016/s0021-9258(17)47216-4
24. Wang D, Tai PW, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nature Rev Drug Discov. 2019;18(5):358-78. DOI:10.1038/s41573-019-0012-9
25. Huang Y, Powers C, Moore V, et al. The PPAR pan-agonist Bezafibrate ameliorates cardiomyopathy in a mouse model of barth syndrome. Orphanet J Rare Dis. 2017;12(1). DOI:10.1186/s13023-017-0605-5
26. Sabbah HN. Elamipretide for Barth syndrome cardiomyopathy: Gradual rebuilding of a failed power grid. Heart Failure Rev. 2021;27(5):1911-23. DOI:10.1007/s10741-021-10177-8
27. Aljishi E, Ali F. Barth Syndrome: An X-linked cardiomyopathy with a novel mutation. Indian J Pediatr. 2010;77(12):1432-33. DOI:10.1007/s12098-010-0222-y
2. Rigaud C, Lebre A-S, Touraine R, et al. Natural history of Barth Syndrome: A national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8(1):70. DOI:10.1186/1750-1172-8-70
3. Bissler JJ, Tsoras M, Göring HH, et al. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Labor Investig. 2002;82(3):335-44. DOI:10.1038/labinvest.3780427
4. Acehan D, Malhotra A, Xu Y, et al. Cardiolipin affects the supramolecular organization of ATP synthase in mitochondria. Biophys J. 2011;100(9):2184-92. DOI:10.1016/j.bpj.2011.03.031
5. Houtkooper RH, Rodenburg RJ, Thiels C, et al. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome. Analytic Biochem. 2009;387(2):230-7. DOI:10.1016/j.ab.2009.01.032
6. Schlame M, Ren M. The role of Cardiolipin in the structural organization of mitochondrial membranes. Biochimica et Biophysica Acta (BBA) – Biomembranes.
2009;1788(10):2080-3. DOI:10.1016/j.bbamem.2009.04.019
7. Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in barth syndrome. Ann Neurol. 2002;51(5):634-7. DOI:10.1002/ana.10176
8. Klingenberg M. Cardiolipin and mitochondrial carriers. Biochimica et Biophysica Acta (BBA) – Biomembranes. 2009;1788(10):2048-58. DOI:10.1016/j.bbamem.2009.06.007
9. Cade WT, Bohnert KL, Peterson LR, et al. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with barth syndrome. J Inherit Metab Dis. 2019;42(3):480-93. DOI:10.1002/jimd.12094
10. Fatica EM, DeLeonibus GA, House A, et al. Barth syndrome: Exploring cardiac metabolism with induced pluripotent stem cell-derived cardiomyocytes. Metabolites. 2019;9(12):306. doi:10.3390/metabo9120306
11. Gonzalvez F, Gottlieb E. Cardiolipin: Setting the beat of apoptosis. Apoptosis. 2007;12(5):877-85. DOI:10.1007/s10495-007-0718-8
12. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Mol Genet Metab. 2012;106(1):115-20. DOI:10.1016/j.ymgme.2012.01.015
13. Kang S-L, Forsey J, Dudley D, et al. Clinical characteristics and outcomes of cardiomyopathy in Barth Syndrome: The UK experience. Pediatr Cardiol. 2015;37(1):167-76. DOI:10.1007/s00246-015-1260-z
14. Roberts AE, Nixon C, Steward CG, et al. The Barth Syndrome Registry: Distinguishing Disease Characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012;158A(11):2726-32. DOI:10.1002/ajmg.a.35609
15. Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical Laboratory Studies in Barth syndrome. Mol Genet Metab. 2014;112(2):143-7. DOI:10.1016/j.ymgme.2014.03.007
16. Jacob ML, Johnco C, Dane BF, et al. Psychosocial functioning in Barth Syndrome: Assessment of individual and Parental Adjustment. Children’s Health Care.
2015;46(1):66-92. DOI:10.1080/02739615.2015.1124768
17. Mazzocco MMM, Henry AE, Kelly RI. Barth syndrome is associated with a cognitive phenotype. J Development Behav Pediatr.
2007;28(1):22-30. DOI:10.1097/01.dbp.0000257519.79803.90
18. Raches D, Mazzocco MM. Emergence and nature of mathematical difficulties in young children with barth syndrome. J Development Behav Pediatr. 2012;33(4):328-35. DOI:10.1097/dbp.0b013e31824c4090
19. Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of Cardiomyopathies. Eur Heart J. 2023;44(37):3503-626. DOI:10.1093/eurheartj/ehad194
20. Терещенко С.Н., Галявич А.С., Ускач Т.М., и др. Хроническая сердечная недостаточность. Клинические рекомендации 2020. Российский кардиологический журнал. 2020;25(11):311-74 [Tereshchenko SN, Galyavich AS, Uskach TM, et al. 2020 Clinical practice guidelines for Chronic heart failure. Russian Journal of Cardiology. 2020;25(11):311-74 (in Russian)]. DOI:10.15829/1560-4071-2020-4083
21. Reynolds S. Successful Management of Barth Syndrome: A systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc. 2015:8:345-58. DOI:10.2147/jmdh.s54802
22. Lopaschuk GD, Verma S. Mechanisms of cardiovascular benefits of sodium glucose co-transporter 2 (SGLT2) inhibitors. JACC. 2020;5(6):632-44. DOI:10.1016/j.jacbts.2020.02.004
23. Sumegi B, Srere PA. Binding of the enzymes of fatty acid beta-oxidation and some related enzymes to pig heart inner mitochondrial membrane. J Biol Chem.
1984;259(14):8748-52. DOI:10.1016/s0021-9258(17)47216-4
24. Wang D, Tai PW, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nature Rev Drug Discov. 2019;18(5):358-78. DOI:10.1038/s41573-019-0012-9
25. Huang Y, Powers C, Moore V, et al. The PPAR pan-agonist Bezafibrate ameliorates cardiomyopathy in a mouse model of barth syndrome. Orphanet J Rare Dis. 2017;12(1). DOI:10.1186/s13023-017-0605-5
26. Sabbah HN. Elamipretide for Barth syndrome cardiomyopathy: Gradual rebuilding of a failed power grid. Heart Failure Rev. 2021;27(5):1911-23. DOI:10.1007/s10741-021-10177-8
27. Aljishi E, Ali F. Barth Syndrome: An X-linked cardiomyopathy with a novel mutation. Indian J Pediatr. 2010;77(12):1432-33. DOI:10.1007/s12098-010-0222-y
________________________________________________
1. Miller PC, Ren M, Schlame M, et al. A bayesian analysis to determine the prevalence of Barth syndrome in the pediatric population. J Pediatr. 2020;217:139-44. DOI:10.1016/j.jpeds.2019.09.074
2. Rigaud C, Lebre A-S, Touraine R, et al. Natural history of Barth Syndrome: A national cohort study of 22 patients. Orphanet J Rare Dis. 2013;8(1):70. DOI:10.1186/1750-1172-8-70
3. Bissler JJ, Tsoras M, Göring HH, et al. Infantile dilated X-linked cardiomyopathy, G4.5 mutations, altered lipids, and ultrastructural malformations of mitochondria in heart, liver, and skeletal muscle. Labor Investig. 2002;82(3):335-44. DOI:10.1038/labinvest.3780427
4. Acehan D, Malhotra A, Xu Y, et al. Cardiolipin affects the supramolecular organization of ATP synthase in mitochondria. Biophys J. 2011;100(9):2184-92. DOI:10.1016/j.bpj.2011.03.031
5. Houtkooper RH, Rodenburg RJ, Thiels C, et al. Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome. Analytic Biochem. 2009;387(2):230-7. DOI:10.1016/j.ab.2009.01.032
6. Schlame M, Ren M. The role of Cardiolipin in the structural organization of mitochondrial membranes. Biochimica et Biophysica Acta (BBA) – Biomembranes.
2009;1788(10):2080-3. DOI:10.1016/j.bbamem.2009.04.019
7. Schlame M, Towbin JA, Heerdt PM, et al. Deficiency of tetralinoleoyl-cardiolipin in barth syndrome. Ann Neurol. 2002;51(5):634-7. DOI:10.1002/ana.10176
8. Klingenberg M. Cardiolipin and mitochondrial carriers. Biochimica et Biophysica Acta (BBA) – Biomembranes. 2009;1788(10):2048-58. DOI:10.1016/j.bbamem.2009.06.007
9. Cade WT, Bohnert KL, Peterson LR, et al. Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with barth syndrome. J Inherit Metab Dis. 2019;42(3):480-93. DOI:10.1002/jimd.12094
10. Fatica EM, DeLeonibus GA, House A, et al. Barth syndrome: Exploring cardiac metabolism with induced pluripotent stem cell-derived cardiomyocytes. Metabolites. 2019;9(12):306. doi:10.3390/metabo9120306
11. Gonzalvez F, Gottlieb E. Cardiolipin: Setting the beat of apoptosis. Apoptosis. 2007;12(5):877-85. DOI:10.1007/s10495-007-0718-8
12. Cosson L, Toutain A, Simard G, et al. Barth syndrome in a female patient. Mol Genet Metab. 2012;106(1):115-20. DOI:10.1016/j.ymgme.2012.01.015
13. Kang S-L, Forsey J, Dudley D, et al. Clinical characteristics and outcomes of cardiomyopathy in Barth Syndrome: The UK experience. Pediatr Cardiol. 2015;37(1):167-76. DOI:10.1007/s00246-015-1260-z
14. Roberts AE, Nixon C, Steward CG, et al. The Barth Syndrome Registry: Distinguishing Disease Characteristics and growth data from a longitudinal study. Am J Med Genet A. 2012;158A(11):2726-32. DOI:10.1002/ajmg.a.35609
15. Vernon HJ, Sandlers Y, McClellan R, Kelley RI. Clinical Laboratory Studies in Barth syndrome. Mol Genet Metab. 2014;112(2):143-7. DOI:10.1016/j.ymgme.2014.03.007
16. Jacob ML, Johnco C, Dane BF, et al. Psychosocial functioning in Barth Syndrome: Assessment of individual and Parental Adjustment. Children’s Health Care.
2015;46(1):66-92. DOI:10.1080/02739615.2015.1124768
17. Mazzocco MMM, Henry AE, Kelly RI. Barth syndrome is associated with a cognitive phenotype. J Development Behav Pediatr.
2007;28(1):22-30. DOI:10.1097/01.dbp.0000257519.79803.90
18. Raches D, Mazzocco MM. Emergence and nature of mathematical difficulties in young children with barth syndrome. J Development Behav Pediatr. 2012;33(4):328-35. DOI:10.1097/dbp.0b013e31824c4090
19. Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC guidelines for the management of Cardiomyopathies. Eur Heart J. 2023;44(37):3503-626. DOI:10.1093/eurheartj/ehad194
20. Tereshchenko SN, Galyavich AS, Uskach TM, et al. 2020 Clinical practice guidelines for Chronic heart failure. Russian Journal of Cardiology. 2020;25(11):311-74 (in Russian). DOI:10.15829/1560-4071-2020-4083
21. Reynolds S. Successful Management of Barth Syndrome: A systematic review highlighting the importance of a flexible and multidisciplinary approach. J Multidiscip Healthc. 2015:8:345-58. DOI:10.2147/jmdh.s54802
22. Lopaschuk GD, Verma S. Mechanisms of cardiovascular benefits of sodium glucose co-transporter 2 (SGLT2) inhibitors. JACC. 2020;5(6):632-44. DOI:10.1016/j.jacbts.2020.02.004
23. Sumegi B, Srere PA. Binding of the enzymes of fatty acid beta-oxidation and some related enzymes to pig heart inner mitochondrial membrane. J Biol Chem.
1984;259(14):8748-52. DOI:10.1016/s0021-9258(17)47216-4
24. Wang D, Tai PW, Gao G. Adeno-associated virus vector as a platform for gene therapy delivery. Nature Rev Drug Discov. 2019;18(5):358-78. DOI:10.1038/s41573-019-0012-9
25. Huang Y, Powers C, Moore V, et al. The PPAR pan-agonist Bezafibrate ameliorates cardiomyopathy in a mouse model of barth syndrome. Orphanet J Rare Dis. 2017;12(1). DOI:10.1186/s13023-017-0605-5
26. Sabbah HN. Elamipretide for Barth syndrome cardiomyopathy: Gradual rebuilding of a failed power grid. Heart Failure Rev. 2021;27(5):1911-23. DOI:10.1007/s10741-021-10177-8
27. Aljishi E, Ali F. Barth Syndrome: An X-linked cardiomyopathy with a novel mutation. Indian J Pediatr. 2010;77(12):1432-33. DOI:10.1007/s12098-010-0222-y
Авторы
М.Д. Муксинова*1, Ю.Ф. Осмоловская1, И.В. Леонтьева2, М.А. Галаева1, О.В. Стукалова1, А.Г. Бениашвили3, А.А. Сафиуллина1, И.В. Жиров1, С.Н. Терещенко1
1ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России, Москва, Россия;
2ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
3ФГБНУ «Научный центр психического здоровья», Москва, Россия
*mmd6638@yandex.ru
1ФГБУ «Национальный медицинский исследовательский центр кардиологии им. акад. Е.И. Чазова» Минздрава России, Москва, Россия;
2ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова» Минздрава России, Москва, Россия;
3ФГБНУ «Научный центр психического здоровья», Москва, Россия
*mmd6638@yandex.ru
________________________________________________
Marina D. Muksinova*1, Yulia F. Osmolovskaya1, Irina V. Leontyeva2, Mareta A. Galaeva1, Olga V. Stukalova1, Allan G. Beniashvili3, Alfiya A. Safiullina1, Igor V. Zhirov1, Sergey N. Tereshchenko1
1Chazov National Medical Research Center of Cardiology, Moscow, Russia;
2Pirogov Russian National Research Medical University, Moscow, Russia;
3Mental Health Science Center, Moscow, Russia
*mmd6638@yandex.ru
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