Preview

Rational Pharmacotherapy in Cardiology

Advanced search

КАРДИОМИОПАТИЯ ПРИ АТАКСИИ ФРИДРЕЙХА: СОВРЕМЕННЫЕ МЕТОДЫ ДИАГНОСТИКИ

Abstract

Атаксия Фридрейха является одним из наиболее распространенных вариантов наследственных атаксий. Заболевание носит полиорганный характер, в первую очередь затрагивая нервную и сердечно-сосудистую системы. Подавляющее большинство зарубежных и отечественных публикаций по атаксии Фридрейха посвящены неврологическим проявлениям этого заболевания, при этом сопутствующая кардиомиопатия, которая является основной причиной смертности, остается малоизвестной широкому кругу клиницистов. Целью данного обзора является представление актуальной информации.

About the Author

Екатерина Фомичева
ФГБУ НМИЦ терапии и профилактической медицины МЗ РФ
Russian Federation


References

1. Bidichandani SI, Delatycki MB. Friedreich Ataxia. 1998 Dec 18 [Updated 2017 Jun 1]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1281/.

2. Campuzano V et al.Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996; 271:1423–1427. DOI: 10.1126/science.271.5254.1423

3. Galea CA, et al. Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia. Ann. Neurol. 2016; 79:485–495.DOI: 10.1002/ana.24595

4. Filla A, De Michele G, Cavalcanti F, Pianese L, Monticelli A, Campanella G, Cocozza S. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996; 59:554–60.

5. Fomicheva ЕI, Myasnikov RP, Selivyorstov YА, Dadali ЕL, Kotalevskaya YY, Kharlap МS, Koretsky SN, Nuzhny ЕР, Mershina ЕА, Sinitsyn VЕ, Vernokhaeva АN, Bazaeva ЕV, Drapkina ОМ, Boytsov SА. Cardiomyopathy in the Fridreich’s ataxia: clinical presentation and diagnostics of complications. RCJ. 2017;10 (150):100–106 (In Russ) [Фомичева Е. И., Мясников Р. П., Селивёрстов Ю.А., Дадали Е. Л., Коталевская Ю.Ю., Харлап М. С., Корецкий С. Н., Нужный Е.П., Мершина Е.А., Синицын В. Е., Вернохаева А.Н., Базаева Е.В., Драпкина О.М., Бойцов С.А. Кардиомиопатия при атаксии Фридрейха: клинические проявления и диагностика осложнений. РКЖ. 2017;10 (150):100–106].DOI:10.15829/1560-4071-2017-10-100-106

6. Tsou AY, Paulsen EK, Lagedrost SJ, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011; 307:46–49.DOI: 10.1016/j.jns.2011.05.023

7. Unverferth DV, Schmidt WR II, Baker PB and Wooley CF. Morphologic and functional characteristics of the heart in Friedreich’s ataxia. Am. J. Med. 1987; 82:5–10.DOI:10.1016/0002-9343(87)90369-X

8. Raman SV, Phatak K, Hoyle JC, et al. Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. Eur. Heart J. 2010; 32:561–567.DOI: 10.1093/eurheartj/ehq443

9. Koeppen AH. Friedreich’s ataxia: pathology, pathogenesisand molecular genetics. J. Neurol. Sci. 2011; 303: 1–12.DOI: 10.1016/j.jns.2011.01.010

10. Mottram PM, Delatycki MB, Donelan L, et al. Early changes in left ventricular long-axis function in Friedreich ataxia: relation with the FXN gene mutation and cardiac structural change. J Am Soc Echocardiogr. 2011;24:782–789.DOI: 10.1016/j.echo.2011.04.004

11. Rajagopalan B, Francis JM, Cooke F, et al. Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia. Mov Disord. 2010;25:846–852. DOI: 10.1002/mds.22864

12. Payne RM and Peverill RE. Cardiomyopathy of Friedreich’s Ataxia (FRDA). Ir. J. Med. Sci. 2012; 181:569–570.DOI: 10.1007/s11845-012-0808-7

13. Weidemann F, Rummey C, Bijnens B et al. The heart in Friedreich ataxia: definition of cardiomyopathy, disease severity, and correlation with neurological symptoms. Circulation. 2012; 125:1626–1634.DOI: 10.1161/CIRCULATIONAHA.111.059477

14. Weidemann F, Niemann M, Ertl G and Stork S.The different faces of echocardiographic left ventricular hypertrophy: clues to the etiology. J. Am. Soc. Echocardiogr. 2010; 23:793–801.DOI: 10.1016/j.echo.2010.05.020

15. Giunta A, Maione S, Biagini R, Filla A, De Michele G, Campanella G. Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich’s ataxia. Cardiology 1988; 75:321–327. DOI: 10.1159/000174394

16. Dutka DP, Donnelly JE, Palka P, Lange A, Nunez DJ, Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich’s ataxia with tissue Doppler-echocardiographically derived myocardial velocity gradients. Circulation 2000;102:1276 –1282. DOI: 10.1161/01.cir.102.11.1276

17. Regner SR, Lagedrost SJ, Plappert T et al. Analysis of echocardiograms in a large heterogeneous cohort of patients with Friedreich ataxia. Am. J. Cardiol. 2012; 109: 401–405.DOI: 10.1016/j.amjcard.2011.09.025

18. Payne RM, Pride PM and Babbey CM. Cardiomyopathy of Friedreich’s ataxia: use of mouse models to understand human disease and guide therapeutic development. Pediatr. Cardiol. 2011; 32:366–378. DOI: 10.1007/s00246-011-9943-6

19. Casazza F, Morpurgo M. The varying evolution of Friedreich’s ataxia cardiomyopathy. Am J Cardiol. 1996;77:895–898. DOI: 10.1016/s0002-9149(97)89194-1

20. Quercia N, Somers GR, Halliday W, Kantor PF, Banwell B, Yoon G. Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. Neuromuscul Disord. 2010;20:340–342. DOI: 10.1016/j.nmd.2010.02.019

21. Casazza F, Morpurgo M. Progression of hypertrophic into a dilated left ventricle in Friedreich’s ataxia. G Ital Cardiol 1988; 18:615–618.

22. Silva MC, Meira ZM, Gurgel Giannetti J, da Silva MM, Campos AF, Barbosa Mde M, Starling Filho GM, Ferreira Rde A, Zatz M, Rochitte CE. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol. 2007;49: 1874 –1879. DOI: 10.1016/j.jacc.2006.10.078

23. Weidemann F, Strotmann J. Early detection of Fabry disease: cardiac cases. Clin Ther. 2008;30(suppl B):S46.DOI: 10.1016/s0149-2918(08)80039-2

24. Roelandt JRTC, Pozzoli M. Non-invasive assessment of left ventricular diastolic (dys)function and filling pressure. Heart 2001; 2:116– 125. DOI: 10.1002/ejhf.971

25. Kipps A, Alexander M, Colan SD, Gauvreau K, Smoot L, Crawford L, Darras BT, Blume ED. The longitudinal course of cardiomyopathy in Friedreich’s ataxia during childhood. PediatrCardiol. 2009;30:306– 310. DOI: 10.1007/s00246-008-9305-1

26. Sutton MG, Olukotun AY, Tajik AJ, Lovett JL, Giuliani ER. Left ventricular function in Friedreich’s ataxia. An echocardiographic study. Br Heart J. 1980;44:309 –316. DOI: 10.1136/hrt.44.3.309

27. Nagueh SF, Smiseth OA, Appleton CP, et al. Recommendations for the Evaluation of Left Ventricular Diastolic Function by Echocardiography: An Update from the American Society of Echocardiography and the European Association of Cardiovascular. Imaging. Eur Heart J Cardiovasc Imaging. 2016;17:1321-60. DOI: 10.1016/j.echo.2016.01.011

28. Nagueh SF, McFalls J, Meyer D, Hill R, Zoghbi WA, Tam JW et al. Tissue Doppler imaging predicts the development of hypertrophic cardiomyopathy in subjects with subclinical disease. Circulation 2003;108:395–403. DOI: 10.1161/01.CIR.0000084500.72232.8D

29. Vinereanu D, Florescu N, Sculthorpe N, Tweddel AC, Stephens MR, Fraser AG. Differentiation between pathologic and physiologic left ventricular hypertrophy by tissue Doppler assessment of long-axis function in patients with hypertrophic cardiomyopathy or systemic hypertension and in athletes. Am J Cardiol 2001;88: 53–60. DOI: 10.1016/s0002-9149(01)01585-5

30. Abduch MC, Alencar AM, Mathias WJr, Vieira ML. Cardiac mechanics evaluated by speckle tracking echocardiography. Arq Bras Cardiol. 2014;102(4):403-414. DOI: 10.5935/abc.20140041

31. Nikiforov VS, Marsalskaya OA, Novikov VI. Echocardiographic assessment of myocardial strain in clinical practice. Saint Petersburg.: KultInform Press; 2015. (In Russ.) [Никифоров В.С., Марсальская О.А., Новиков В.И. Эхокардиографическая оценка деформации миокарда в клинической практике. СПб.: КультИнформПресс; 2015]

32. Mor-Avi V, Lang RM, Badano LP, et al. Current and evolving echocardiographic techniques for the quantitative evaluation of cardiac mechanics: ASE/EAE consensus statement on methodology and indications endorsed by the Japanese Society of Echocardiography. Eur J Echocardiogr. 2011;12(3):167-205.DOI: 10.1016/j.echo.2011.01.015

33. Weidemann F, Breunig F, Beer M et al. The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease. Eur. Heart J. 2005; 26:1221–1227.DOI: 10.1093/eurheartj/ehi143

34. Weidemann F, Niemann M. Breunig F et al.Long-term effects of enzyme replacement therapy on Fabry cardiomyopathy: evidence for a better outcome with early treatment. Circulation. 2009; 119:524–529.DOI: 10.1161/CIRCULATIONAHA.108.794529

35. Smiseth OA, Torp H, Opdahl A, et al. Myocardial strain imaging: how useful is it in clinical decision making? Eur Heart J. 2016;37(15):196-207. DOI: 10.1093/eurheartj/ehv529

36. He XW, Song ZZ. Evaluation of left ventricular function, rotation, twist and untwist in patients with hypertrophic cardiomyopathy. Exp Clin Cardiol. 2013;18(1):e47-55.

37. Dedobbeleer C, Rai M, Donal E, Pandolfo M and Unger P. Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich’s ataxia. Eur. Heart J. Cardiovasc. Imaging. 2012; 13: 346–352. DOI: 10.1093/ejechocard/jer267

38. Dong SJ, Hees PS, Siu CO, Weiss JL, Shapiro EP. MRI assessment of LV relaxation by untwisting rate: a new isovolumic phase measure of tau. Am J Physiol Heart Circ Physiol2001;281:2002–2011.DOI: 10.1152/ajpheart.2001.281.5.H2002

39. Dutka DP, Donnelly JE, Palka P, Lange A, Nunez DJR, Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich’s ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 2000;102:1276-82. DOI: 10.1161/01.CIR.102.11.1276

40. Schalla S, Nagel E, Lehmkuhl H, Klein C, Bornstedt A, Schnackenburg B et al. Comparison of magnetic resonance real-time imaging of LV function with conventional magnetic resonance imaging and echocardiography. Am J Cardiol. 2001;87:95-104. DOI: 10.1016/s0002-9149(00)01279-0

41. Kim RJ, Fieno DS, Parrish TB, Harris K, Chen EL, Simonetti O, Bundy J, Finn JP, Klocke FJ, Judd RM. Relationship of MRI delayed contrast enhancement to irreversible injury, infarct age, and contractile function. Circulation. 1999; 100:1992-2002. DOI: 10.1161/01.CIR.100.19.1992

42. Kwong RY, Chan AK, Brown KA et al. Impact of unrecognized myocardial scar detected by cardiac magnetic resonance imaging on event-free survival in patients presenting with signs or symptoms of coronary artery disease. Circulation. 2006;113:2733-43. DOI: 10.1161/CIRCULATIONAHA.105.570648

43. Perazzolo Marra M, De Lazzari M, Zorzi A, Migliore F, Zilio F, Calore C, Vettor G, Tona F, Tarantini G, Cac- ciavillani L, Corbetti F, Giorgi B, Miotto D, Thiene G, Basso C, Iliceto S, Corrado D. Impact of the presence and amount of myocardial fibrosis by cardiac magnetic resonance on arrhythmic outcome and sudden cardiac death in nonischemic dilated cardiomyopathy. Heart Rhythm. 2014;11(5):856-863. DOI: 10.1016/j.hrthm.2014.01.014

44. Koeppen AH, Ramirez RL, Becker AB, Bjork ST, Levi S, Santambrogio P, Parsons PJ, Kruger PC, Yang KX, Feustel PJ, Mazurkiewicz JE. The pathogenesis of cardiomyopathy in Friedreich ataxia. PLoS One. 2015;10(3):e0116396. DOI: 10.1371/journal.pone.0116396

45. Michael S, Petrocine SV, Qian J, Lamarche JB, Knutson MD, Garrick MD, Koeppen AH. Iron and iron-responsive proteins in the cardiomyopathy of Friedreich’s ataxia. Cerebellum. 2006;5(4):257-267. DOI: 10.1080/14734220600913246

46. Friedrich MG, Sechtem U, Schulz-Menger J, Holmvang G, Alakija P, Cooper LT, White JA, Abdel-Aty H, Gut- berlet M, Prasad S, Aletras A, Laissy JP, Paterson I, Filipchuk NG, Kumar A, Pauschinger M, Liu P; International Consensus Group on Cardiovascular Magnetic Resonance in Myocarditis. Cardiovascular magnetic resonance in myocarditis: A JACC White Paper. J Am Coll Cardiol. 2009;53(17):1475-1487. DOI: 10.1016/j.jacc.2009.02.007

47. Lehrke S, Lossnitzer D, Schob M, Steen H, Merten C, Kemmling H, Pribe R, Ehlermann P, Zugck C, Korosoglou G, Giannitsis E, Katus HA. Use of cardiovascular magnetic resonance for risk stratification in chronic heart failure: Prognostic value of late gadolinium enhancement in patients with non-ischaemic dilated cardiomyopathy. Heart. 2011;97(9):727-732. DOI: 10.1136/hrt.2010.205542

48. Frustaci A, Russo MA, Chimenti C. Randomized study on the efficacy of immunosuppressive therapy in patients with virus-negative inflammatory cardiomyopathy: The TIMIC study. Eur Heart J. 2009;30(16):1995-2002. DOI: 10.1093/eurheartj/ehp249

49. Raman SV, Dickerson JA, Al-Dahhak R. Myocardial ischemia in the absence of epicardial coronary artery disease in Friedreich’s ataxia. J Cardiovasc MagnReson. 2008;10:15. DOI: 10.1186/1532-429X-10-15

50. Mavrogeni S, Apostolou D, Argyriou P, Velitsista S, Papa L, Efentakis S, Vernardos E, Kanoupaki M, Kanoupakis G, Manginas A. T1 and T2 mapping in cardiology: “Mapping the obscure object of desire". Cardiology. 2017;138(4): 207-17. DOI: 10.1159/000478901

51. Weidemann F, Liu D, Hu K, Florescu C, Niemann M, Herrmann S, Kramer B, Klebe S, Doppler K, Üçeyler N, Ritter CO, Ertl G, Störk S. The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement. Int J Cardiol. 2015; 194: 50–57. DOI: 10.1016/j.ijcard.2015.05.074


Views: 11


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 1819-6446 (Print)
ISSN 2225-3653 (Online)