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Валеология: Здоровье, Болезнь, Выздоровление. 2020; : 71-78

ЭПИДЕМИОЛОГИЯ, ЭТИОЛОГИЧЕСКИЕ ФАКТОРЫ И ГЕНЕТИКА ЛЕГОЧНОЙ ГИПЕРТЕНЗИИ

МАРДЕНКЫЗЫ Д.

Аннотация

   В обзорной статье представлены результаты многочисленных исследований, посвященных изучению распространенности, современным генетическим аспектам и причинам развития легочной гипертензии.

Список литературы

1. Hoeper M. M., Bogaard H. J., Condliffe R., Frantz R., Khanna D., Kurzyna M., Langleben D., Manes A., Satoh T., Torres F., Wilkins M. R., Badesch D. B. Definitions and diagnosis of pulmonary hypertension. J Am Coll Cardiol. 2013; 62 (25 Suppl): D 42-D 50. doi:10.1016/j.jacc.2013.10.032.

2. Primary Pulmonary Hypertension: Report of a WHO Meeting. Eds. Hatano S., Strasser T., Geneva: World Health Organization. 1975. doi:10.1016/S0002-8703(76)80167-6.

3. D’Alonzo G. E., Barst R. J., Ayres S. M. et al (Division of Lung Diseases, National Heart, Lung, and Blood Institute, Bethesda, MD 20892.) Survival in patients with primary pulmonary hypertension. Results from a national prospective registry. Ann Intern Med. 1991; 115: 343-349. doi:10.7326/0003-4819-115-5-343.

4. Galiè N., Hoeper M., Humbert M. et al G; ESC Committee for Practice Guidelines (CPG). Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J. 2009; 30: 2493-2537. doi: 10.1093/eurheartj/ehp297.

5. Galiè N., Hoeper M. M., et al. Task Force for Diagnosis and Treatment of Pulmonary Hypertension of European Society of Cardiology (ESC); European Respiratory Society (ERS); International Society of Heart and Lung Transplantation (ISHLT), Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J. 2009; 34: 1219-1263. doi:10.1183/09031936.00139009.

6. Macchia A., Marchioli R., Marfisi R., Scarano M., Levantesi G., Tavazzi L., Tognoni G. A meta-analysis of trials of pulmonary hypertension: a clinical condition looking for drugs and research methodology. Am Heart J. 2007; 153: 1037-1047.

7. Hoeper M. M., Bogaard H. J., Condliffe R. et al. Definitions and diagnosis of pulmonary hypertension. J.Am. Coll. Cardiol. 2013; 62 (Suppl.): D42–D50. DOI: 10.1016/j.jacc.2013.10.032.

8. Kovacs G., Berghold A., Scheidl S. et al. Pulmonary arterial pressure during rest and exercise in healthy subjects: A systematic review. Eur. Respir. J. 2009; 34 (4): 888–894. DOI: 10.1183/09031936.00145608.

9. Simonneau G., Galiè N., Rubin L. J. et al. Clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2004; 43 (Suppl. 1): S 5–S 12.

10. Simonneau G., Gatzoulis M. A., Adatia I. et al. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D34–D41. DOI: 10.1016/j.jacc.2013.10.029.

11. Dhillon R. The management of neonatal pulmonary hypertension. Arch. Dis. Child Fetal. Neonatal. Ed. 2012; 97 (3): F 223–F 228. DOI: 10.1136/adc.2009.180091.

12. Porta N. F., Steinhorn R. H. Pulmonary vasodilator therapy in the NICU: inhaled nitric oxide, sildenafil, and other pulmonary vasodilating agents. Clin. Perinatol. 2012; 39 (1): 149–164. DOI: 10.1016/j.clp.2011.12.006.

13. Ivy D. D., Abman S. H., Barst R. J. et al. Pediatric pulmonary hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 117–D 126. DOI: 10.1016/j.jacc.2013.10.028.

14. Humbert M., Sitbon O., Chaouat A. et al. Pulmonary arterial hypertension in France: results from a national registry. Am. J. Respir. Crit. Care Med. 2006; 173 (9): 1023–1030. DOI: 10.1164/rccm.200510-1668OC.

15. Peacock A. J., Murphy N. F., McMurray J. J. V. et al. An epidemiological study of pulmonary arterial hypertension. Eur. Respir. J. 2007; 30 (1): 104–109. DOI: 10.1183/09031936.00092306.

16. McGoon M. D., Benza R. L., Escribano-Subias P. et al. Pulmonary arterial hypertension: epidemiology and registries. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 51–D 59.

17. Simonneau G., Robbins I., Beghetti M., et al. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2009; 54 (Suppl.): S 43–S 54.

18. Montani D., Bergot E., Günther S. et al. Pulmonary arterial hypertension in patients treated by dasatinib. Circulation. 2012; 125 (17): 2128–2137. DOI: 10.1161/CIRCULATIONAHA.111.079921.

19. Savale L., Chaumais M. C., Cottin V. et al. Pulmonary hypertension associated with benfluorex exposure. Eur. Respir. J. 2012; 40 (5): 1164–1172. DOI: 10.1183/09031936.00188611.

20. Savale L., Sattler C., Gunther S. et al. Pulmonary arterial hypertension in patients treated with interferon. Eur. Respir. J. 2014; 44 (6): 1627–1634. DOI: 10.1183/09031936.00057914.

21. Badesch B. D., Champion H. C., Gomez-Sanchez M. A. et al. Diagnosis and assessment of pulmonary arterial hypertension. J. Am. Coll. Cardiol. 2009; 54 (Suppl.): S 55–S 56.

22. Oudiz R. J. Pulmonary hypertension associated with left-sided heart disease. Clin. Chest Med. 2007; 28 (1): 233– 241. DOI: 10.1016/j.ccm.2006.12.001.

23. Vahanian A., Alfieri O., Andreotti F. et al. Guidelines on the management of valvular heart disease (version 2012). Eur. Heart J. 2012; 33 (19): 2451–2496. doi: 10.1093/eurheartj/ehs109.

24. Seeger W., Adir Y., Barberà J. A. et al. Pulmonary hypertension in chronic lung diseases. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 109–D 116.

25. Hurdman J., Condliffe R., Elliot C. A. et al. Pulmonary hypertension in COPD: results from the ASPIRE registry. Eur. Respir. J. 2013; 41 (6): 1292–1301. DOI: 10.1183/09031936.00079512.

26. Cottin V., Nunes H., Brillet P. Y. et al. Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur. Respir. J. 2005; 26 (4): 586–593. DOI: 10.1183/09031936.05.00021005.

27. Escribano-Subias P., Blanco I., Lopez-Meseguer M. et al. Survival in pulmonary hypertension in Spain: insights from the Spanish registry. Eur. Respir. J. 2012; 40 (3): 596–603. DOI: 10.1183/09031936.00101211.

28. Pengo V., Lensing A. W., Prins M. H. et al. Incidence of chronic thromboembolic pulmonary hypertension after pulmonary embolism. N. Engl. J. Med. 2004; 350 (22): 2257–2264. DOI: 10.1056/NEJMoa032274.

29. Pepke-Zaba J., Delcroix M., Lang I. et al. Chronic thromboembolic pulmonary hypertension (CTEPH): results from an international prospective registry. Circulation. 2011; 124 (18): 1973–1981. DOI: 10.1161/CIRCULATIONAHA.110.015008.

30. Soubrier F., Chung W. K., Machado R. et al. Genetics and genomics of pulmonary arterial hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 13–D 21.

31. Ma L., Roman-Campos D., Austin E. D. et al. A novel channelopathy in pulmonary arterial hypertension. N. Engl. J. Med. 2013; 369 (4): 351–361. DOI: 10.1056/NEJMoa1211097.

32. Eyries M., Montani D., Girerd B. et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat. Genet. 2014; 46 (1): 65–69. DOI: 10.1038/ng.2844.

33. Eddahibi S., Chaouat A., Morrell N. et al. Polymorphism of the serotonin transporter gene and pulmonary hypertension in chronic obstructive pulmonary disease. Circulation. 2003; 108 (15): 1839–1844. DOI: 10.1161/01.CIR.0000091409.53101.E8.

Valeology: Health - Illnes - recovery. 2020; : 71-78

EPIDEMIOLOGY, ETIOLOGICAL FACTORS AND GENETICS OF PULMONARY HYPERTENSION

MARDENKYZY D.

Abstract

   The review article presents the results of numerous studies on the prevalence, modern genetic aspects, and causes of pulmonary hypertension.

References

1. Hoeper M. M., Bogaard H. J., Condliffe R., Frantz R., Khanna D., Kurzyna M., Langleben D., Manes A., Satoh T., Torres F., Wilkins M. R., Badesch D. B. Definitions and diagnosis of pulmonary hypertension. J Am Coll Cardiol. 2013; 62 (25 Suppl): D 42-D 50. doi:10.1016/j.jacc.2013.10.032.

2. Primary Pulmonary Hypertension: Report of a WHO Meeting. Eds. Hatano S., Strasser T., Geneva: World Health Organization. 1975. doi:10.1016/S0002-8703(76)80167-6.

3. D’Alonzo G. E., Barst R. J., Ayres S. M. et al (Division of Lung Diseases, National Heart, Lung, and Blood Institute, Bethesda, MD 20892.) Survival in patients with primary pulmonary hypertension. Results from a national prospective registry. Ann Intern Med. 1991; 115: 343-349. doi:10.7326/0003-4819-115-5-343.

4. Galiè N., Hoeper M., Humbert M. et al G; ESC Committee for Practice Guidelines (CPG). Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J. 2009; 30: 2493-2537. doi: 10.1093/eurheartj/ehp297.

5. Galiè N., Hoeper M. M., et al. Task Force for Diagnosis and Treatment of Pulmonary Hypertension of European Society of Cardiology (ESC); European Respiratory Society (ERS); International Society of Heart and Lung Transplantation (ISHLT), Guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Respir J. 2009; 34: 1219-1263. doi:10.1183/09031936.00139009.

6. Macchia A., Marchioli R., Marfisi R., Scarano M., Levantesi G., Tavazzi L., Tognoni G. A meta-analysis of trials of pulmonary hypertension: a clinical condition looking for drugs and research methodology. Am Heart J. 2007; 153: 1037-1047.

7. Hoeper M. M., Bogaard H. J., Condliffe R. et al. Definitions and diagnosis of pulmonary hypertension. J.Am. Coll. Cardiol. 2013; 62 (Suppl.): D42–D50. DOI: 10.1016/j.jacc.2013.10.032.

8. Kovacs G., Berghold A., Scheidl S. et al. Pulmonary arterial pressure during rest and exercise in healthy subjects: A systematic review. Eur. Respir. J. 2009; 34 (4): 888–894. DOI: 10.1183/09031936.00145608.

9. Simonneau G., Galiè N., Rubin L. J. et al. Clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2004; 43 (Suppl. 1): S 5–S 12.

10. Simonneau G., Gatzoulis M. A., Adatia I. et al. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D34–D41. DOI: 10.1016/j.jacc.2013.10.029.

11. Dhillon R. The management of neonatal pulmonary hypertension. Arch. Dis. Child Fetal. Neonatal. Ed. 2012; 97 (3): F 223–F 228. DOI: 10.1136/adc.2009.180091.

12. Porta N. F., Steinhorn R. H. Pulmonary vasodilator therapy in the NICU: inhaled nitric oxide, sildenafil, and other pulmonary vasodilating agents. Clin. Perinatol. 2012; 39 (1): 149–164. DOI: 10.1016/j.clp.2011.12.006.

13. Ivy D. D., Abman S. H., Barst R. J. et al. Pediatric pulmonary hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 117–D 126. DOI: 10.1016/j.jacc.2013.10.028.

14. Humbert M., Sitbon O., Chaouat A. et al. Pulmonary arterial hypertension in France: results from a national registry. Am. J. Respir. Crit. Care Med. 2006; 173 (9): 1023–1030. DOI: 10.1164/rccm.200510-1668OC.

15. Peacock A. J., Murphy N. F., McMurray J. J. V. et al. An epidemiological study of pulmonary arterial hypertension. Eur. Respir. J. 2007; 30 (1): 104–109. DOI: 10.1183/09031936.00092306.

16. McGoon M. D., Benza R. L., Escribano-Subias P. et al. Pulmonary arterial hypertension: epidemiology and registries. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 51–D 59.

17. Simonneau G., Robbins I., Beghetti M., et al. Updated clinical classification of pulmonary hypertension. J. Am. Coll. Cardiol. 2009; 54 (Suppl.): S 43–S 54.

18. Montani D., Bergot E., Günther S. et al. Pulmonary arterial hypertension in patients treated by dasatinib. Circulation. 2012; 125 (17): 2128–2137. DOI: 10.1161/CIRCULATIONAHA.111.079921.

19. Savale L., Chaumais M. C., Cottin V. et al. Pulmonary hypertension associated with benfluorex exposure. Eur. Respir. J. 2012; 40 (5): 1164–1172. DOI: 10.1183/09031936.00188611.

20. Savale L., Sattler C., Gunther S. et al. Pulmonary arterial hypertension in patients treated with interferon. Eur. Respir. J. 2014; 44 (6): 1627–1634. DOI: 10.1183/09031936.00057914.

21. Badesch B. D., Champion H. C., Gomez-Sanchez M. A. et al. Diagnosis and assessment of pulmonary arterial hypertension. J. Am. Coll. Cardiol. 2009; 54 (Suppl.): S 55–S 56.

22. Oudiz R. J. Pulmonary hypertension associated with left-sided heart disease. Clin. Chest Med. 2007; 28 (1): 233– 241. DOI: 10.1016/j.ccm.2006.12.001.

23. Vahanian A., Alfieri O., Andreotti F. et al. Guidelines on the management of valvular heart disease (version 2012). Eur. Heart J. 2012; 33 (19): 2451–2496. doi: 10.1093/eurheartj/ehs109.

24. Seeger W., Adir Y., Barberà J. A. et al. Pulmonary hypertension in chronic lung diseases. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 109–D 116.

25. Hurdman J., Condliffe R., Elliot C. A. et al. Pulmonary hypertension in COPD: results from the ASPIRE registry. Eur. Respir. J. 2013; 41 (6): 1292–1301. DOI: 10.1183/09031936.00079512.

26. Cottin V., Nunes H., Brillet P. Y. et al. Combined pulmonary fibrosis and emphysema: a distinct underrecognised entity. Eur. Respir. J. 2005; 26 (4): 586–593. DOI: 10.1183/09031936.05.00021005.

27. Escribano-Subias P., Blanco I., Lopez-Meseguer M. et al. Survival in pulmonary hypertension in Spain: insights from the Spanish registry. Eur. Respir. J. 2012; 40 (3): 596–603. DOI: 10.1183/09031936.00101211.

28. Pengo V., Lensing A. W., Prins M. H. et al. Incidence of chronic thromboembolic pulmonary hypertension after pulmonary embolism. N. Engl. J. Med. 2004; 350 (22): 2257–2264. DOI: 10.1056/NEJMoa032274.

29. Pepke-Zaba J., Delcroix M., Lang I. et al. Chronic thromboembolic pulmonary hypertension (CTEPH): results from an international prospective registry. Circulation. 2011; 124 (18): 1973–1981. DOI: 10.1161/CIRCULATIONAHA.110.015008.

30. Soubrier F., Chung W. K., Machado R. et al. Genetics and genomics of pulmonary arterial hypertension. J. Am. Coll. Cardiol. 2013; 62 (25, Suppl.): D 13–D 21.

31. Ma L., Roman-Campos D., Austin E. D. et al. A novel channelopathy in pulmonary arterial hypertension. N. Engl. J. Med. 2013; 369 (4): 351–361. DOI: 10.1056/NEJMoa1211097.

32. Eyries M., Montani D., Girerd B. et al. EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension. Nat. Genet. 2014; 46 (1): 65–69. DOI: 10.1038/ng.2844.

33. Eddahibi S., Chaouat A., Morrell N. et al. Polymorphism of the serotonin transporter gene and pulmonary hypertension in chronic obstructive pulmonary disease. Circulation. 2003; 108 (15): 1839–1844. DOI: 10.1161/01.CIR.0000091409.53101.E8.