Preview

"Arterial’naya Gipertenziya" ("Arterial Hypertension")

Advanced search

Clinical features of cardiomiopathies caused by cardiac troponin I mutations (review)

https://doi.org/10.18705/1607-419X-2009-15-6-648-651

Abstract

Clinical and genetic aspects of cardiomyopathies caused by cardiac troponin I mutations are observed. Apparent clinical heterogeneity with development of both hypertrophic and restrictive phenotypes and high risk of sudden death are presented.

About the Authors

M. V. Youschenko
St Petersburg State Pediatric Medical Academy
Russian Federation


E. V. Shlyakhto
Almazov Federal Heart, Blood and Endocrinology Centre
Russian Federation


G. A. Novik
St Petersburg State Pediatric Medical Academy
Russian Federation


A. A. Kostareva
Almazov Federal Heart, Blood and Endocrinology Centre
Russian Federation


A. Ya. Gudkova
Pavlov State Medical University
Russian Federation


References

1. Maron B., McKenna J., Danielson G. et al. ACC/ESC Expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines // J. Am. Coll. Cardiol. - 2003. - Vol. 42, №9. - P. 1687-1713.

2.

3. Maron B.J. Hypertrophic cardiomyopathy: an important global disease // Am. J. Med. - 2004. - Vol. 116, № 1. - P. 63-65.

4.

5. Nugent A.W., Daubeney P.E.F., Chondros P. et al. The epidemiology of childhood cardiomyopathy in Australia // N. Engl. J. Med. - 2003. - Vol. 348, № 17. - P. 1639-1646.

6.

7. Keren A., Syrris P., McKenna W.J. Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression // Nat. Clin. Practice Cardiovasc. Med. - 2008. - Vol. 5, № 3. - P. 158-168.

8.

9. Шляхто Е.В., Гудкова А.Я., Семернин Е.Н. и др. Первичные кардиомиопатии. - СПб.: Издательство СПбГМУ, 2005. - 232 с.

10.

11. Burton D., Abdularazzak H., Knott A. Two mutations in cardiac troponin I that cause hypertrophic cardiomyopathy have contrasting effect on cardiac muscule contractility // Biochem. J. - 2002. - Vol. 362, № 2. - P. 443-451.

12.

13. Du J., Zhang C., Liu J. et al. A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice // Arch. Biochem. Biophys. - 2006. - Vol. 456, № 2. - P. 143-150.

14.

15. Du J., Liu J., Feng H.Z. et al. Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI // Am. J. Physiol. Heart. Circ. Physiol. - 2008. - Vol. 294, № 6. - P. 2604-2613.

16.

17. Iorga B., Blaudeck N., Solzin J. et al. Lys184 deletion in troponin I impairs relaxation kinetics and induces hypercontractility in murine cardiac myofi brils // Cardiovasc. Res. - 2008. - Vol. 77, № 4. - P. 676-686.

18.

19. Wen Y., Pinto J.R., Gomes A.V. Functional consequences of the human cardiac troponin I hypertrophic cardiomyopathy mutation R145G in transgenic mice // J. Biol. Chem. - 2008. - Vol. 283, № 29. - P. 20484- 20494.

20.

21. Kostareva A., Gudkova A., Sjoberg G. et al. Deletion in TNNI3 gene is associated with restrictive cardiomyopathy // Int. J. Cardiol. - 2007. - Vol. 131, № 3. - P. 410-412.

22.

23. Костарева А.А. Клиническое и экспериментальное изучение первичной кардиомиопатии, связанной с мутациями гена десмина: Автореф. дис.  канд. мед. наук: 14.00.06. - СПб., 2006. - 22 с.

24.

25. Pinto J.R., Parvatiyar M.S., Jones M.A. et al. A troponin T mutation that causes infantile restrictive cardiomyopathy increases Ca2+ sensitivity of force development and impairs the inhibitory properties of troponin //J. Biol. Chem. - 2008. - Vol. 283, № 4. - P. 2156-2166.

26.

27. Kaski J.P., Syrris P., Burch M. et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes // Heart. - 2008. - Vol. 94, № 11. - P. 1478-1484.

28.

29. Ware S.M., Quinn M.E., Ballard E.T. et al. Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain // Clin. Genet. - 2008. - Vol. 73, № 2. - P. 165-170.

30.

31. Mogensen J., Kubo T., Duque M. et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations //J. Clin. Invest. - 2003. - Vol. 111, № 2. - P. 209-216.

32.

33. Mogensen J., Murphy R.T., Kubo T. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy // J. Am. Coll. Cardiol. - 2004. - Vol. 44, № 12. - P. 2315-2325.

34.

35. Mogensen J., Kubo T., Duque M. et al. Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations //J. Clin. Invest. - 2003. - Vol. 111, № 2. - P. 209-216.

36.

37. Doolan A., Tebo M., Ingles J. et al. Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences // J. Mol. Cell. Cardiol. - 2005. - Vol. 38, № 2. - P. 387-393.

38.

39. Kokado H., Shimizu M., Yoshio H. et al. Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene // Circulation. - 2000. - Vol. 102, № 6. - P. 663-669.

40.

41. Niimura H., Patton K.K., McKenna W.J. et al. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly // Circulation. - 2002. - Vol. 105, № 4. - P. 446-451.

42.

43. Frazier A., Judge D.P., Schulman S.P. et al. Familial hypertrophic cardiomyopathy associated with cardiac ƒ-myosin heavy chain and troponin I mutations // Pediatr. Cardiol. - 2008. - Vol. 29, № 4. - P. 846-850.

44.

45. Kimura A., Harada H., Park J.E. et al. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy // Nat. Genet. - 1997. - Vol. 16, № 4. - P. 379-382.

46.

47. Shimizu M., Ino H., Okeie K. et al. T-peak to T-end interval may be a better predictor of high-risk patients with hypertrophic cardiomyopathy associated with a cardiac troponin I mutation than QT dispersion // Clin. Cardiol. - 2002. - Vol. 25, № 7. - P. 335-339.

48.

49. Konno T., Shimizu M., Ino H. et al. Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects // J. Intern. Med. - 2005. - Vol. 258, № 3. - P. 216-224.

50.

51. Moon J.C., Mogensen J., Elliott P.M. et al. Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I // Heart. - 2005. - Vol. 91, № 8. - P. 1036-1040.

52.

53. Lang R., Gomes A.V., Zhao J. et al. Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy //J. Biol. Chem. - 2002. - Vol. 277, № 14. - P. 11670-11678.

54.

55. James J., Zhang Y., Osinska H. et al. Transgenic modeling of a cardiac troponin I mutation linked to familial hypertrophic cardiomyopathy // Circ. Res. - 2000. - Vol. 87, № 9. - P. 805-801.

56.

57. Kubo T., Gimeno J.R., Bahl A. et al. Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype // J. Am. Coll. Cardiol. - 2007. - Vol. 49, № 25. - P. 2427- 2436.

58.

59. Gambarin F.I., Tagliani M., Arbustini E. Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray // Heart. - 2008. - Vol. 94, № 10. - P. 1257-1263.

60.


Review

For citations:


Youschenko M.V., Shlyakhto E.V., Novik G.A., Kostareva A.A., Gudkova A.Ya. Clinical features of cardiomiopathies caused by cardiac troponin I mutations (review). "Arterial’naya Gipertenziya" ("Arterial Hypertension"). 2009;15(6):648-651. (In Russ.) https://doi.org/10.18705/1607-419X-2009-15-6-648-651

Views: 830


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


ISSN 1607-419X (Print)
ISSN 2411-8524 (Online)