Late onset sporadic dilated cardiomyopathy caused by a cardiac troponin T mutation

Clinical and Translational Science

Volumn 3, Issue 5, 2010, Pages 219-226

  Morales, Ana ^a   Pinto, Jose Renato ^a   Siegfried, Jill D ^a   Li, Duanxiang ^a   Norton, Nadine ^a   Hofmeyer, Mark ^a   Vallin, Marta ^a   Morales, Azorides R ^a   Potter, James D ^a   Hershberger, Ray E ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

Author keywords

Dilated cardiomyopathy; Genetics

Indexed keywords

TROPONIN T;

AGED; ANAMNESIS; ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; DISEASE COURSE; FEMALE; GENE MUTATION; GENE SEQUENCE; HEART EJECTION FRACTION; HEART FAILURE; HEART LEFT VENTRICLE EJECTION FRACTION; HEART RIGHT VENTRICLE; HEART TRANSPLANTATION; HUMAN; HUMAN TISSUE; ONSET AGE; PRIORITY JOURNAL;

AGE OF ONSET; AGED; AMINO ACID SUBSTITUTION; ANIMALS; CARDIOMYOPATHY, DILATED; EXONS; FEMALE; HETEROZYGOTE; HUMANS; INTRONS; MALE; MUTATION; MYOCARDIUM; PEDIGREE; SUS SCROFA; TROPONIN T;

SUS;

EID: 78049273390     PISSN: 17528054     EISSN: 17528062     Source Type: Journal    
DOI: 10.1111/j.1752-8062.2010.00228.x     Document Type: Article

References (37)

1. Hershberger RE, Lindenfeld J, Mestroni L, Seidman CE, Taylor MR, Towbin JA. Genetic evaluation of cardiomyopathy-a Heart Failure Society of America practice guideline. J Card Fail. 2009; 15: 83-97.
2. Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol. 2005; 45: 969-981.
3. Hershberger RE, Cowan J, Morales A, Siegfried JD. Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Heart Fail. 2009; 2: 253-261.
4. Hershberger RE, Kushner JK, Parks SP. Dilated Cardiomyopathy Overview. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online). Available at: Accessed July 10, 2008.
5. Judge DP, Johnson NM. Genetic evaluation of familial cardiomyopathy. J Cardiovasc Trans Res. 2008; 1: 144-154.
6. Hershberger R, Norton N, Morales A, Li D, Siegfried J, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 And TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010; 3: 155-161.
7. Hershberger RE, Parks SB, Kushner JD, Li D, Ludwigsen S, Jakobs P, Nauman D, Burgess D, Partain J, Litt M. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Translat Sci. 2008; 1: 21-26.
8. 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.
9. 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 identified in patients with dilated cardiomyopathy. Circ Genet. 2009; 2: 306-313.
10. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen 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.
11. 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.
12. 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.
13. 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.
14. Judge DP. Use of genetics in the clinical evaluation of cardiomyopathy. JAMA. 2009; 302: 2471-2476.
15. Kushner JD, Nauman D, Burgess D, Ludwigsen S, Parks S, Pantely G, Burkett EL, Hershberger R. Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy. J Card Fail. 2006; 12: 422-429.
16. Townsend PJ, Farza H, MacGeoch C, Spurr NK, Wade R, Gahlmann R, Yacoub MH, Barton PJ. Human cardiac troponin T: identification of fetal isoforms and assignment of the TNNT2 locus to chromosome 1q. Genomics. 1994; 21: 311-316.
17. 2+ sensitivity and inhibition of force development. Insights into the role of troponin T isoforms in the heart. J Biol Chem. 2002; 277: 35341-35349.
18. Venkatraman G, Harada K, Gomes AV, Kerrick WG, Potter JD. Different functional properties of troponin T mutants that cause dilated cardiomyopathy. J Biol Chem. 2003; 278: 41670-41676.
19. Venkatraman G, Gomes AV, Kerrick WG, Potter JD. Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform. J Biol Chem. 2005; 280: 17584-17592.
20. 2+ sensitivity of cardiac muscle contraction. J Biol Chem. 2004; 279: 14488-14495.
21. Morimoto S, Lu QW, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M, Sasaguri T, Ohtsuki I. Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA. 2002; 99: 913-918.
22. 2+ desensitization. J Mol Cell Cardiol. 2003; 35: 1421-1427.
23. Mirza M, Marston S, Willott R, Ashley C, Mogensen J, McKenna W, Robinson P, Redwood C, Watkins H. Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype. J Biol Chem. 2005; 280: 28498-28506.
24. Robinson P, Griffiths PJ, Watkins H, Redwood CS. Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments. Circ Res. 2007; 101: 1266-1273.
25. Hershberger RE. A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010; 55: 1454-1455.
26. Badano JL, Katsanis N. Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev Genet. 2002; 3: 779-789.
27. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet. 2008; 40: 695-701.
28. Kies P, Bootsma M, Bax J, Schalij MJ, Van Der Wall EE. Arrhythmogenic right ventricular dysplasia/cardiomyopathy: screening, diagnosis, and treatment. Heart Rhythm. 2006; 3: 225-234.
29. Roberts JD, Veinot JP, Rutberg J, Gollob MH. Inherited cardiomyopathies mimicking ARVC. Cardiovasc Pathol. 2009.
30. 2+-regulated actomyosin S1 ATPase. J Biol Chem. 2002; 277: 34662-34665.
31. Lomelin D, Jorgenson E, Risch N. Human genetic variation recognizes functional elements in noncoding sequence. Genome Res. 2010; 20: 311-319.
32. Mannikko R, Jefferies C, Flanagan SE, Hattersley A, Ellard S, Ashcroft FM. Interaction between mutations in the slide helix of Kir6. 2 associated with neonatal diabetes and neurological symptoms. Hum Mol Genet. 19: 963-972.
33. Blair E, Price SJ, Baty CJ, Ostman-Smith I, Watkins H. Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy. J Med Genet. 2001; 38: 385-388.
34. GeneReviews at GeneTests: Medical Genetics Information Resource. GeneTests/GeneClinics. Available at: Accessed September 12, 2008.
35. Mickle JE, Cutting GR. Clinical implications of cystic fibrosis transmembrane conductance regulator mutations. Clin Chest Med. 1998; 19: 443-458.
36. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002; 105: 446-51.
37. Niimura H, Patton KK, McKenna WJ, Soults J, Maron BJ, Seidman JG, Seidman CE. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation. 2002; 105: 446-451.