A case of dilated cardiomyopathy caused by TNNT2 mutation diagnosed delayed
Main Article Content
Hao Thai Phan, MD, PhD
http://orcid.org/0000-0001-5306-4065
http://orcid.org/0000-0001-5306-4065
Abstract
Dilated cardiomyopathy is one of the leading causes of heart failure with high morbidity and mortality. Although more than 40 genes have been reported to cause dilated cardiomyopathy, the role of genetic testing in clinical practice is not well defined. Mutations in the troponin T (TNNT2) gene represent an important subset of known disease-causing mutations associated with dilated cardiomyopathy. Mutations in TNNT2, encoding cardiac troponin T, commonly shows early onset, aggressive dilated cardiomyopathy. This observation may influence the decision of whether to undertake clinical genetic testing for TNNT2 in later onset dilated cardiomyopathy. Further, the trigger for late onset dilated cardiomyopathy remains enigmatic. Here, we presented a case of dilated cardiomyopathy caused by TNNT2 mutation in 59-year-old male.
Keywords:
dilated cardiomyopathy, genetics, TNNT2 mutation
Article Details
How to Cite
PHAN, Hao Thai.
A case of dilated cardiomyopathy caused by TNNT2 mutation diagnosed delayed.
Medical Research Archives, [S.l.], v. 11, n. 12, dec. 2023.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/4822>. Date accessed: 23 nov. 2024.
doi: https://doi.org/10.18103/mra.v11i12.4822.
Section
Case Reports
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
1. P. Elliott, B. Andersson, E. Arbustini et al., “Classification of the cardiomyopathies: a position statement from the european society of cardiology working group on myocardial and pericardial diseases,” European Heart Journal, vol. 29, no. 2, pp. 270–276, 2008.
2. B. J. Maron, J. A. Towbin, G. Thiene et al., “Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention,” Circulation, vol. 113, no. 14, pp. 1807–1816, 2006.
3. M. Kamisago, S. D. Sharma, S. R. DePalma et al., “Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy,”The New England Journal of Medicine, vol. 343, no. 23, pp. 1688–1696, 2000.
4. E. L. Burkett and R. E. Hershberger, “Clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 45, no. 7, pp. 969–981, 2005.
5. L. Dellefave and E. M. McNally, “The genetics of dilated cardiomyopathy,” Current Opinion in Cardiology, vol. 25, no. 3, pp. 198–204, 2010.
6. R. E. Hershberger and J. D. Siegfried, “Update 2011: clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 57, no. 16, pp. 1641–1649, 2011.
7. M. Garc´ıa-Castro, E. Coto, J. R. Reguero et al., “Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With Hypertrophic Cardiomyopathy,” Revista Espanola de Cardiologia, vol. 62, no. 1, pp. 48–56, 2009.
8. A. P. Landstrom, B. A. Adekola, J. M. Bos, S. R. Ommen, and M. J. Ackerman, “PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing,” American Heart Journal, vol. 161, no. 1, pp. 165–171, 2011.
9. M. Garc´ıa-Castro, J. R. Reguero, A. Batalla et al., “Hypertrophic cardiomyopathy: low frequency of mutations in the 𝛽-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients,” Clinical Chemistry, vol. 49, no. 8, pp. 1279–1285, 2003.
10. A. N. Chang, M. S. Parvatiyar, and J. D. Potter, “Troponin and cardiomyopathy,” Biochemical and Biophysical Research Communications, vol.369, no.1, pp.74–81,2008.
11. R. E. Hershberger, J. R. Pinto, S. B. Parks et al., “Clinical and functional Characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy,” Circulation: Cardiovascular Genetics,vol.2,no.4,pp.306–313,2009.
12. Hershberger RE, Lindenfeld J , Mestroni L , Seidman CE , Taylor MR , Towbin JA . Genetic evalua tion of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2009; 15: 83–97.
13. Judge DP, Johnson NM. Genetic evaluation of familial cardiomyopathy. J Cardiovasc Trans Res. 2008; 1: 144–154.
14. Hershberger R, Norton N , MoralesA, Li D, Siegfried J, Gonzalez-Quintana J. Coding sequence rare variants identifi ed in MYBPC3, MYH6, TPM1, TNNC1 And TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010; 3: 155–161.
15. Hershberger RE , Parks SB , Kushner JD , Li D , Ludwigsen S , Jakobs P , Nauman D , Burgess D , Partain J , Litt M . Coding sequence mutations identifi ed in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Translat Sci. 2008; 1: 21–26.
16. Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008; 156:161–9.
17. Hershberger R , Pinto J , Parks S , Kushner J , Li D , Ludwigsen S , Cowan J , Morales A , Parvatiyar M , Potter J . Clinical and functional characterization of TNNT2 mutations identifi ed in patients with dilated cardiomyopath. Circ Genet. 2009; 2: 306–313.
18. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mul len MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000; 343:1688–1696.
19. Li D, Czernuszewicz GZ, Gonzalez O, Tapscott T, Karibe A, Durand JB, Brugada R, Hill R, Gregoritch JM, Anderson JL, Quinones M, Bachinski LL, Roberts R. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation. 2001; 104:2188–93.
20. Hanson E , Jakobs P , Keegan H , Coates K , Bousman S , Dienel N , Litt M , Hershberger R . Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002; 8: 28–32.
21. Mogensen J , Murphy RT , Shaw T , Bahl A , Redwood C , Watkins H , Burke M , Elliott PM, McKenna WJ . Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004; 44: 2033–2040.
2. B. J. Maron, J. A. Towbin, G. Thiene et al., “Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention,” Circulation, vol. 113, no. 14, pp. 1807–1816, 2006.
3. M. Kamisago, S. D. Sharma, S. R. DePalma et al., “Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy,”The New England Journal of Medicine, vol. 343, no. 23, pp. 1688–1696, 2000.
4. E. L. Burkett and R. E. Hershberger, “Clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 45, no. 7, pp. 969–981, 2005.
5. L. Dellefave and E. M. McNally, “The genetics of dilated cardiomyopathy,” Current Opinion in Cardiology, vol. 25, no. 3, pp. 198–204, 2010.
6. R. E. Hershberger and J. D. Siegfried, “Update 2011: clinical and genetic issues in familial dilated cardiomyopathy,” Journal of the American College of Cardiology, vol. 57, no. 16, pp. 1641–1649, 2011.
7. M. Garc´ıa-Castro, E. Coto, J. R. Reguero et al., “Mutations in Sarcomeric Genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in Patients With Hypertrophic Cardiomyopathy,” Revista Espanola de Cardiologia, vol. 62, no. 1, pp. 48–56, 2009.
8. A. P. Landstrom, B. A. Adekola, J. M. Bos, S. R. Ommen, and M. J. Ackerman, “PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing,” American Heart Journal, vol. 161, no. 1, pp. 165–171, 2011.
9. M. Garc´ıa-Castro, J. R. Reguero, A. Batalla et al., “Hypertrophic cardiomyopathy: low frequency of mutations in the 𝛽-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients,” Clinical Chemistry, vol. 49, no. 8, pp. 1279–1285, 2003.
10. A. N. Chang, M. S. Parvatiyar, and J. D. Potter, “Troponin and cardiomyopathy,” Biochemical and Biophysical Research Communications, vol.369, no.1, pp.74–81,2008.
11. R. E. Hershberger, J. R. Pinto, S. B. Parks et al., “Clinical and functional Characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy,” Circulation: Cardiovascular Genetics,vol.2,no.4,pp.306–313,2009.
12. Hershberger RE, Lindenfeld J , Mestroni L , Seidman CE , Taylor MR , Towbin JA . Genetic evalua tion of cardiomyopathy—a Heart Failure Society of America practice guideline. J Card Fail. 2009; 15: 83–97.
13. Judge DP, Johnson NM. Genetic evaluation of familial cardiomyopathy. J Cardiovasc Trans Res. 2008; 1: 144–154.
14. Hershberger R, Norton N , MoralesA, Li D, Siegfried J, Gonzalez-Quintana J. Coding sequence rare variants identifi ed in MYBPC3, MYH6, TPM1, TNNC1 And TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010; 3: 155–161.
15. Hershberger RE , Parks SB , Kushner JD , Li D , Ludwigsen S , Jakobs P , Nauman D , Burgess D , Partain J , Litt M . Coding sequence mutations identifi ed in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Translat Sci. 2008; 1: 21–26.
16. Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008; 156:161–9.
17. Hershberger R , Pinto J , Parks S , Kushner J , Li D , Ludwigsen S , Cowan J , Morales A , Parvatiyar M , Potter J . Clinical and functional characterization of TNNT2 mutations identifi ed in patients with dilated cardiomyopath. Circ Genet. 2009; 2: 306–313.
18. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mul len MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000; 343:1688–1696.
19. Li D, Czernuszewicz GZ, Gonzalez O, Tapscott T, Karibe A, Durand JB, Brugada R, Hill R, Gregoritch JM, Anderson JL, Quinones M, Bachinski LL, Roberts R. Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy. Circulation. 2001; 104:2188–93.
20. Hanson E , Jakobs P , Keegan H , Coates K , Bousman S , Dienel N , Litt M , Hershberger R . Cardiac troponin T lysine-210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002; 8: 28–32.
21. Mogensen J , Murphy RT , Shaw T , Bahl A , Redwood C , Watkins H , Burke M , Elliott PM, McKenna WJ . Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004; 44: 2033–2040.