Autopsy Findings in Siblings with Hypertrophic Cardiomyopathy Caused by Arg92Trp Mutation in the Cardiac Troponin T Gene Showing Dilated Cardiomyopathy-Like Features

Clinical Cardiology

Volumn 26, Issue 11, 2003, Pages 536-539

  Shimizu, Masami ^a   Ino, Hidekazu ^a   Yamaguchi, Masato ^a   Terai, Hidenobu ^a   Uchiyama, Katsuharu ^a   Inoue, Masaru ^a   Ikeda, Masatoshi ^a   Kawashima, Atsuhiro ^a   Mabuchi, Hiroshi ^a  

^a KANAZAWA UNIVERSITY   (Japan)

Author keywords

Cardiac troponin T; Gene mutation; Hypertrophic cardiomyopathy

Indexed keywords

ARGININE; PROTEIN; SARCOMERIC PROTEIN; TROPONIN T; TRYPTOPHAN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; AUTOPSY; CASE REPORT; CONGESTIVE HEART FAILURE; FEMALE; GENE; GENE MUTATION; GENOTYPE; HEART DILATATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MALE; SARCOMERE; TROPONIN T GENE;

EID: 0242321679     PISSN: 01609289     EISSN: None     Source Type: Journal    
DOI: 10.1002/clc.4960261112     Document Type: Article

References (10)

1. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K: Familial hypertrophic cardiomyopathy. From mutations to functional defects. Circ Res 1998;83:580-593
2. Fujino N, Shimizu M, Ino H, Okeie K, Yamaguchi M, Yasuda T, Kokado H, Mabuchi H: Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. Clin Cardiol 2001;24:397-402
3. Spirito P, Maron BJ, Bonow RO, Epstein SE: Occurrence and significance of progressive left ventricular wall thinning and relative cavity dilatation in hypertrophic cardiomyopathy. Am J Cardiol 1987;59:123-129
4. Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ: Hypertrophic cardiomyopathy. Histopathological features of sudden death in cardiac troponin T disease. Circulation 2001;104:1380-1384
5. Tardiff JC, Factor SM, Tompkins BD, Hewett TE, Palmer BM, Moore RL, Schwartz S, Robbins J, Leinwand LA: A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy. J Clin Invest 1998;101:2800-2811
6. Oberst L, Zhao G, Park JT, Brugada R, Michael LH, Entman ML, Roberts R, Marian AJ: Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice. J Clin Invest 1998;102:1498-1505
7. Tardiff JC, Hewett TE, Palmer BM, Olsson C, Factor SM, Moore RL, Robbins J, Leinwand LA: Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy. J Clin Invest 1999;104:469-481
8. Frey N, Franz WM, Gloeckner K, Degenhardt M, Muller M, Muller O, Merz H, Katus HA: Transgenic rat heart expressing a human cardiac troponin T deletion reveal diastolic dysfunction and ventricular arrhythmias. Cardiovasc Res 2000:47:254-264
9. Marian AJ, Zhao G, Seta Y, Roberts R, Yu Q: Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility. Circ Res 1997;81:76-85
10. Tazelaar RD, Billingham ME: The surgical pathology of hypertrophic cardiomyopathy. Arch Pathol Lab Med 1987;111:257-260