Differences in the diagnostic value of various criteria of negative T waves for hypertrophic cardiomyopathy based on a molecular genetic diagnosis

Clinical Science

Volumn 112, Issue 11-12, 2007, Pages 577-582

  Konno, Tetsuo ^a   Fujino, Noboru ^a   Hayashi, Kenshi ^a   Uchiyama, Katsuharu ^a   Masuta, Eiichi ^a   Katoh, Hiromasa ^a   Sakamoto, Yuichiro ^a   Tsubokawa, Toshinari ^a   Ino, Hidekazu ^a   Yamagishi, Masakazu ^a  

^a KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

Author keywords

Echocardiography; Electrocardiography; Genotyping; Hypertrophic cardiomyopathy (HCM); Left ventricular hypertrophy (LVH); Molecular diagnosis; Negative T wave

Indexed keywords

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DIAGNOSTIC VALUE; ELECTROCARDIOGRAPHY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HEART LEFT VENTRICLE HYPERTROPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; Q WAVE; SENSITIVITY AND SPECIFICITY; T WAVE;

ADULT; CARDIOMYOPATHY, HYPERTROPHIC; ELECTROCARDIOGRAPHY; FEMALE; HETEROZYGOTE DETECTION; HUMANS; MALE; MUTATION; PEDIGREE; SENSITIVITY AND SPECIFICITY;

EID: 34249811199     PISSN: 01435221     EISSN: None     Source Type: Journal    
DOI: 10.1042/CS20060293     Document Type: Article

References (25)

1. Geisterfer-Lowrance, A. A., Kass, S., Tanigawa, G. et al. (1990) A molecular basis for familial hypertrophic cardiomyopathy: a β-cardiac myosin heavy chain gene missense mutation. Cell 62, 999-1006
2. Maron, B. J., Olivotto, I., Spirito, P. et al. (2000) Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. Circulation 102, 858-864
3. Sakamoto, T., Tei, C., Murayama, M., Ichiyasu, H. and Hada, Y. (1976) Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy (AAH) of the left ventricle. Echocardiographic and ultrasonocardiotomographic study. Jpn Heart J. 17, 611-629
4. Yamaguchi, H., Ishimura, T., Nishiyama, S. et al. (1979) Hypertrophic nonobstructive cardiomyopathy with giant negative T waves (apical hypertrophy): ventriculographic and echocardiographic features in 30 patients. Am. J. Cardiol. 44, 401-412
5. Alfonso, F., Nihoyannopoulos, P., Stewart, J., Dickie, S., Lemery, R. and McKenna, W. J. (1990) Clinical significance of giant negative T waves in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 15, 965-971
6. Charron, P. H., Forissier, J. F., Amara, M. E. et al. (2003) Accuracy of European diagnostic criteria for familial hypertrophic cardiomyopathy in a genotyped population. Int. J. Cardiol. 90, 33-38
7. Shimizu, M., Ino, H., Yamaguchi, M. et al. (2002) Chronologic electrocardiographic changes in patients with hypertrophic cardiomyopathy associated with cardiac troponin I mutation. Am. Heart J. 143, 289-293
8. Konno, T., Shimizu, M., Ino, H. et al. (2004) Diagnostic value of abnormal Q waves for identification of preclinical carriers of hypertrophic cardiomyopathy based on a molecular genetic diagnosis. Eur. Heart J. 25, 246-252
9. Kokado, H., Shimizu, M., Yoshio, H. et al. (2000) Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene. Circulation 102, 663-669
10. Carrier, L., Bonne, G., Bahrend, E. et al. (1997) Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy. Circ. Res. 80, 427-434
11. Jaenicke, T., Diederich, K. W., Haas, W. et al. (1990) The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product. Genomics 8, 194-206
12. Thierfelder, L., Watkins, H., MacRae, C. et al. (1994) α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 77, 701-712
13. Kimura, A., Harada, H., Park, J. E. et al. (1997) Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat. Genet. 16, 379-382
14. Romhilt, D. W. and Estes, E. H. (1968) A point-score system for the ECG diagnosis of left ventricular hypertrophy. Am. Heart J. 75, 752-758
15. Charron, P. H., Dubourg, O., Desnos, M. et al. (1998) Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin binding protein G gene. Circulation 97, 2230-2236
16. Grimes, D. A. and Schulz, K. F. (2002) Uses and abuses of screening tests. Lancet 359, 881-884
17. Konno, T., Shimizu, M., Ino, H. et al. (2003) A novel missense mutation in the myosin binding protein-C gene is responsible hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. J. Am. Coll. Cardiol. 41, 781-786
18. Nishi, H., Kimura, A., Harada, H. et al. (1995) A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy. Circulation 91, 2911-2915
19. Nishi, H., Kimura, A., Harada, H. et al. (1994) Possible gene dose effect of a mutant cardiac β-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 200, 549-556
20. Fujino, N., Shimizu, M., Ino, H. et al. (2001) Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy. Clin. Cardiol. 24, 397-402
21. Fujino, N., Shimizu, M., Ino, H. et al. (2002) A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy. Am. J. Cardiol. 89, 29-33
22. Fujino, N., Shimizu, N. M., Ino, H. et al. (2005) Clinical features of hypertrophic cardiomyopathy associated with a novel Val85Leu missense mutation in the cardiac troponin T gene. Circ. J. 69 (Suppl. 1), 459-460
23. Konno, T., Shimizu, M., Ino, H. et al. (2006) A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death. Clin. Sci. 110, 125-131
24. Kitaoka, H., Doi, Y., Casey, S. A., Hitomi, N., Furuno, T. and Maron, B. J. (2003) Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am. J. Cardiol. 92, 1183-1186
25. McKenna, W. J., Stewart, J. T., Nihoyannopoulos, P., McGinty, F. and Davies, M. J. (1990) Hypertrophic cardiomyopathy without hypertrophy: two families with myocardial disarray in the absence of increased myocardial mass. Br. Heart J. 63, 287-290