Preview

Rational Pharmacotherapy in Cardiology

Advanced search

Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic

https://doi.org/10.20996/1819-6446-2021-01-05

Full Text:

Abstract

Friedreich's disease is a hereditary neurodegenerative multiple organ disease, primarily affecting the most energy-dependent tissues (cells of the nervous system, myocardium, pancreas), the lesion of which is characterized by progressive ataxia, dysarthria, dysphagia, oculomotor disorders, loss of deep tendon reflexes, pyramid signs, diabetes mellitus, visual impairment. Friedreich's ataxia is the most common of all hereditary ataxias; nevertheless, this disease is considered orphan. By its pathogenesis, Friedreich's disease is mitochondrial ataxia, caused by a deficiency in the transcription of the FXN gene, leading to a decrease in the synthesis of the frataxin protein. Frataxin is a protein associated with the inner mitochondrial membrane, which in turn is involved in the formation of iron-sulfur clusters, the lack of which leads to a decrease in the production of mitochondrial ATP, an increase in the level of mitochondrial iron and oxidative stress. The basis of the clinical picture of Friedreich's disease is ataxia of a mixed (sensitive and cerebellar) nature. The steady and gradual progression of neurological symptoms significantly affects the quality of life of patients and is most often the leading reason for seeking medical attention. However, the prognosis is primarily due to the involvement of cardiac tissue in the pathological process. The main causes of death in patients with Friedreich's ataxia are severe heart failure and sudden cardiac death due to cardiomyopathy. The overwhelming majority of foreign and domestic publications on Friedreich's ataxia are devoted to the neurological manifestations of this disease, and little attention is paid to this problem in the cardiological scientific and practical society. The purpose of this review is to provide up-to-date information on modern methods of diagnosing myocardial damage at various stages of Friedreich's disease.

About the Authors

E. I. Fomicheva
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Ekaterina I. Fomicheva

Moscow

eLibrary SPIN: 3287-0327



R. P. Myasnikov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Roman P. Myasnikov

Moscow

eLibrary SPIN:3154-4652



Y. A. Selivyorstov
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Yurii A. Selivyorstov

Moscow

eLibrary SPIN: 3876-6987



S. N. Illarioshkin
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Sergey N. Illarioshkin

Moscow

eLibrary SPIN: 8646-9426



E. L. Dadali
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Elena L. Dadali

Moscow

eLibrary SPIN: 3747-7880



O. M. Drapkina
National Medical Research Center for Therapy and Preventive Medicine
Russian Federation

Oxana M. Drapkina

Moscow

eLibrary SPIN: 4456-1297



References

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

2. Campuzano V., Montermini L., Molto M., et al. Friedreich’s ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science. 1996;271:1423-7. DOI:10.1126/science.271.5254.1423.

3. Galea C.A., Huq A., Lockhart P.J., et al. Compound heterozygous FXN mutations and clinical outcome in Friedreich ataxia. Ann Neurol. 2016;79:485-95. DOI:10.1002/ana.24595.

4. Filla A., De Michele G., Cavalcanti F., et. al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet. 1996;59:55460.

5. Fomicheva Е.I., Myasnikov R.P., Selivyorstov Y.А., et al. Cardiomyopathy in the Fridreich’s ataxia: clinical presentation and diagnostics of complications. Russian Journal of Cardiology. 2017;10(150):100-6 (In Russ) DOI:10.15829/1560-4071-2017-10-100-106.

6. Tsou A.Y., Paulsen E.K., Lagedrost S.J., et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011;307:46- 9. DOI:10.1016/j.jns.2011.05.023.

7. Unverferth D.V., Schmidt W.R. II, Baker P.B., Wooley C.F. 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 S.V., Phatak K., Hoyle J.C., et al. Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome. Eur Heart J. 2010;32:561-7. DOI:10.1093/eurheartj/ehq443.

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

10. Mottram P.M., Delatycki M.B., 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;24:782-9. DOI:10.1016/j.echo.2011.04.004.

11. Rajagopalan B., Francis J.M., Cooke F., et al. Analysis of the factors influencing the cardiac phenotype in Friedreich's ataxia. Mov Disord. 2010;25:846-52. DOI:10.1002/mds.22864.

12. Payne R.M., Peverill R.E. Cardiomyopathy of Friedreich’s Ataxia (FRDA). Ir J Med Sci. 2012;181:569- 70. 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;125:1626-34. DOI:10.1161/CIRCULATIONAHA.111.059477.

14. Weidemann F., Niemann M., Ertl G., 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., et al. Noninvasive assessment of systolic and diastolic function in 50 patients with Friedreich’s ataxia. Cardiology. 1988;75:321-7. DOI:10.1159/000174394.

16. Dutka D.P., Donnelly J.E., Palka P., et al. 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.

17. Regner S.R., Lagedrost S.J., Plappert T., et al. Analysis of echocardiograms in a large heterogeneous cohort of patients with Friedreich ataxia. Am J Cardiol. 2012;109:401-5. DOI:10.1016/j.amjcard.2011.09.025.

18. Payne R.M., Pride P..M, Babbey C.M. Cardiomyopathy of Friedreich’s ataxia: use of mouse models to understand human disease and guide therapeutic development. Pediatr Cardiol. 2011;32:366-78. DOI:10.1007/s00246-011-9943-6.

19. Casazza F., Morpurgo M. The varying evolution of Friedreich’s ataxia cardiomyopathy. Am J Cardiol. 1996;77:895-98. DOI:10.1016/s0002-9149(97)89194-1.

20. Quercia N., Somers G.R., Halliday W., et al. Friedreich ataxia presenting as sudden cardiac death in childhood: clinical, genetic and pathological correlation, with implications for genetic testing and counselling. Neuromuscul Disord. 2010;20:340-42. 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;18:615-8.

22. Silva M.C., Meira Z.M., Gurgel Giannetti J., et al. Myocardial delayed enhancement by magnetic resonance imaging in patients with muscular dystrophy. J Am Coll Cardiol. 2007;49:1874 -9. 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 J.R.T.C., Pozzoli M. Non-invasive assessment of left ventricular diastolic (dys)function and filling pressure. Heart. 2001;2:116-25. DOI:10.1002/ejhf.971.

25. Kipps A., Alexander M., Colan S.D., et al. The longitudinal course of cardiomyopathy in Friedreich’s ataxia during childhood. Pediatr Cardiol. 2009;30:306-10. DOI:10.1007/s00246-008-9305-1.

26. Sutton M.G., Olukotun A.Y., Tajik A.J., et al. Left ventricular function in Friedreich’s ataxia. An echocardiographic study. Br Heart J. 1980;44:309-16. DOI:10.1136/hrt.44.3.309.

27. Nagueh S.F., Smiseth O.A., Appleton C.P., 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 S.F., McFalls J., Meyer D., 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., et al. 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 M.C., Alencar A..M, Mathias W.Jr, Vieira M.L. Cardiac mechanics evaluated by speckle tracking echocardiography. Arq Bras Cardiol. 2014;102(4):403-14. DOI:10.5935/abc.20140041.

31. Nikiforov V.S., Marsalskaya O.A., Novikov V.I. Echocardiographic assessment of myocardial strain in clinical practice. Saint Petersburg: KultInform Press; 2015 (In Russ.)

32. Mor-Avi V., Lang R.M., Badano L.P., 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;26:1221-7. 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;119:524-9. DOI:10.1161/CIRCULATIONAHA.108.794529.

35. Smiseth O.A., 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 X.W., Song Z.Z. 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., et al. Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich’s ataxia. Eur Heart J Cardiovasc Imaging. 2012;13:346-52. DOI: 10.1093/ejechocard/jer267.

38. Dong S.J., Hees P.S., Siu C.O., et al. MRI assessment of LV relaxation by untwisting rate: a new isovolumic phase measure of tau. Am J Physiol Heart Circ Physiol. 2001;281:2002-11. DOI:10.1152/ajpheart.2001.281.5.H2002.

39. Dutka D.P., Donnelly J.E., Palka P., et al. 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., 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 R.J., Fieno D.S., Parrish T.B., et al. 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 R.Y., Chan A.K., Brown K.A., 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., et al. 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):856-63. DOI:10.1016/j.hrthm.2014.01.014.

44. Koeppen A.H., Ramirez R.L., Becker A.B., et al. The pathogenesis of cardiomyopathy in Friedreich ataxia. PLoS One. 2015;10(3):e0116396. DOI:10.1371/journal.pone.0116396.

45. Michael S., Petrocine S.V., Qian J., et al. Iron and iron-responsive proteins in the cardiomyopathy of Friedreich’s ataxia. Cerebellum. 2006;5(4):257-67. DOI: 10.1080/14734220600913246.

46. Friedrich M.G., Sechtem U., Schulz-Menger J., et al. 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):1475-87. DOI:10.1016/j.jacc.2009.02.007.

47. Lehrke S., Lossnitzer D., Schob M., et al. 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):727-32. DOI: 10.1136/hrt.2010.205542.

48. Frustaci A., Russo M.A., 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 S.V., Dickerson J.A., Al-Dahhak R. Myocardial ischemia in the absence of epicardial coronary artery disease in Friedreich’s ataxia. J Cardiovasc Magn Reson. 2008;10:15. DOI:10.1186/1532-429X-10-15.

50. Mavrogeni S, Apostolou D, Argyriou P, et al. 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., et al. The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement. Int J Cardiol. 2015;194:50-7. DOI: 10.1016/j.ijcard.2015.05.074.


For citation:


Fomicheva E.I., Myasnikov R.P., Selivyorstov Yu.A., Illarioshkin S.N., Dadali E.L., Drapkina O.M. Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic. Rational Pharmacotherapy in Cardiology. 2021;17(1):105-110. https://doi.org/10.20996/1819-6446-2021-01-05

Views: 246


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


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