Hypertrophic cardiomyopathy

Casopis Lekaru Ceskych

Volumn 145, Issue 2, 2006, Pages 93-97

  Čapek, Pavel ^a,c   Brdicka R ^b   Veselka, Josef ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

^c FNM ^*  (Czech Republic)

Author keywords

Hypertrophic cardiomyopathy; MYBPC3 gene; MYH7 gene; TNNT2 gene

Indexed keywords

ACTIN; BINDING PROTEIN; CARDIAC MYOSIN; CONNECTIN; CONTRACTILE PROTEIN; CYTOSKELETON PROTEIN; MYOSIN HEAVY CHAIN BETA; MYOSIN LIGHT CHAIN; TROPOMYOSIN; TROPONIN C; TROPONIN I; TROPONIN T;

AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; GENE MUTATION; GENETIC DISORDER; HEART DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MORPHOLOGICAL TRAIT; MYOFILAMENT; REVIEW; THIN FILAMENT;

CARDIOMYOPATHY, HYPERTROPHIC; HUMANS;

EID: 33144477750     PISSN: 00087335     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (35)

1. Towbin, J. A.: Molecular genetic aspects of cardiomyopathy. Biochemical medicine and metabolic biology, 1993, 49, s. 285-320.
2. Marian, A. J., Roberts, R.: The Molecular Genetic Basis for Hypertrophic Cardiomyopathy. J. Mol. Cell. Cardiol., 2001, 33, s. 655-670.
3. Bonne, G., Carrier, L., Richard, P. et al.: Familial Hypertrophic Cardiomyopathy: From mutations to functional defects. Circ. Res., 1998, 83, s. 579-593.
4. Arad, M., Seidman, J. G., Siedman, C. E.: Phenotypic diversity in hypertrophic cardiomyopathy. Hum. Mol. Genet., 2002, 11, s. 2499-506.
5. Geisterfer-Lowrance, A. A., Kass, S., Tanigawa, G. et al.: A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain missense mutation. Cell, 1990, 62, s. 999-1006.
6. Poetter, K., Jiang, H., Hassanzadeh, S. et al.: Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat. Genet., 1996, 13, s. 63-69.
7. Bonne, G., Carrier, L., Bercovici, J. et al.: Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. Nat. Genet., 1995, 11, s. 438-440.
8. Watkins, H., Conner, D., Thierfelder, L. et al.: Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat. Genet., 1995, 11, s. 434-437.
9. Olson, T. M., Doan, T. P., Kishimoto, N. Y. et al.: Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol., 2000, 32, s. 1687-1694.
10. Thierfelder, L., Watkins, H., Macrae, C. et al.: α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell, 1994, 77, s. 710-712.
11. Hoffmann, B., Schmidt-Traub, H., Perrot, A. et al.: First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hum. Mutat., 2001, 17, s. 524.
12. Kimura, A., Harada, H., Park, J. E. et al.: Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat. Genet., 1997, 16, s. 379-382.
13. Satoh, M., Takahashi, M., Sakamoto, T. et al.: Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene. Biochem. Biophys. Res. Commun., 1999, 262, s. 411-417.
14. 2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum. Mol. Genet., 2001, 10, s. 1215-1220.
15. Geier, C., Oezcelik, C., Perrot, A. et al.: Muscle LIM protein: a novel disease gene for hypertrophic cardiomyopathy? Circulation, 2001, 104(Suppl. II), s. II521.
16. D'Cruz, L. G., Baboonian, C., Phillimore, H. E. et al.: Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy. J. Med. Genet., 2000, 37, s. e18.
17. Ho, C. Y., Lever, H. M., Desanctis, R. et al.: Homozygous mutation in cardiac troponin T. Implications for hypertrophic cardiomyopathy. Circulation, 2000, 102, s. 1950-1955.
18. Richard, P., Charron, P., Leclercq, C. et al.: Homozygotes for a R869G mutation in the betamyosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol., 2000, 32, s. 1575-1583.
19. Van Driest, S. L., Ackerman, M. J., Ommen, S. R. et al.: Prevalence and severity of benign mutations in the β-myosin heavy chain, cardiac troponin T, and α-tropomyosin genes in hypertrophic cardiomyopathy. Circulation, 2002, 106, s. 3085-3090.
20. Charron, P., Dubourg, O., Desnos, M., Isnard, R. et al.: Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation, 1997, 96, s. 214-219.
21. Hagege, A. A., Dubourg, O., Desnos, M. et al.: Familial hypertrophic cardiomyopathyCardiac ultrasonic abnormalities in genetically affected subjects without echocardiographic evidence of left ventricular hypertrophy. European Heart Journal, 1998, 19, s. 490-499.
22. Fatkin, D., Graham, R. M.: Molecular Mechanisms of Inherited Cardiomyopathies. Physiol. Rev., 2002, 82, s. 945-980.
23. Rayment, I., Holden, H. M.., Sellers, J. R. et al.: Structural interpretation of the mutations in the β-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. Biophysics., 1995, 92, s. 3864-3868.
24. Marian, A. J.: Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy. Lancet., 2000, 355, s. 58-60.
25. Li, R. K., Li, G., Mickle, D. A. et al.: Overexpression of transforming growth factor-beta1 and insulin-like growth factor-I in patients with idiopathic hypertrophic cardiomyopathy. Circulation., 1997, 96, s. 874-881.
26. Watkins, H., Rosenzweig, A., Hwang, D. S. et al.: Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N. Engl. J. Med., 1992, 326, s. 1108-1114.
27. Anan, R., Greve, G., Thierfelder, L. et al.: Prognostic implications of novel b-cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy. J Clin. Invest., 1994, 93, s. 280-285.
28. Fananapazir, L., Dalakas, M. C., Cyran, F. et al.: Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. USA, 1993, 90, s. 3993-3997.
29. Jääskeläinen, P., Soranta, M., Miettinen, R. et al.: The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population. J. Am. Coll. Cardiol., 1998, 32, s. 1709-1716.
30. Jeschke, B., Uhl, K., Weist, B. et al.: A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes. Hum. Genet., 1998, 102, s. 299-304.
31. Hwang, T., Lee, W., Kimura, A. et al.: Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family. Am. J. Cardiol., 1998, 82, s. 1509-1513.
32. Seidman, C. E., Seidman, J. G.: Molecular genetic studies of familial hypertrophic cardiomyopathy. Basic. Res. Cardiol., 1998, 93, s. 13-16.
33. Erdmann, J., Raible, J., Maki-Abadi, J. et al.: Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol., 2001, 38, s. 322-330.
34. Towbin, J. A.: The role of cytoskeletal proteins in cardiomyopathies. Curr. Opin. Cell. Biol., 1998, 10, s. 131-139.
35. Bowles, N. E., Bowles, K., Towbin, J. A.: Prospects for gene therapy for inherited cardiomyopathies. Progress in Pediatric Cardiology, 2000, 12, s. 133-145.