Molecular epidemiology of hypertrophic cardiomyopathy

Cold Spring Harbor Symposia on Quantitative Biology

Volumn 67, Issue , 2002, Pages 383-388

  Morita, H ^a   DePalma, S R ^a   Arad, M ^a   McDonough, B ^a   Barr, S ^a   Duffy, C ^a   Maron, B J ^b   Seidman, C E ^a,c   Seidman, J G ^a  

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b MINNEAPOLIS HEART INSTITUTE FOUNDATION   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CONFERENCE PAPER; CONTROLLED STUDY; DISEASE ASSOCIATION; DYSPNEA; ECHOCARDIOGRAPHY; GENE IDENTIFICATION; GENE MUTATION; GENOME; HEART LEFT VENTRICLE HYPERTROPHY; HEART PALPITATION; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SUDDEN DEATH; THORAX PAIN; ALPHA HELIX; ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; DNA FLANKING REGION; DNA SEQUENCE; EXON; HEART LEFT VENTRICLE WALL; HEART VENTRICLE HYPERTROPHY; MOLECULAR EPIDEMIOLOGY; SARCOMERE;

ACTIN; ALPHA TROPOMYOSIN; DNA; TROPONIN I; TROPONIN T;

EID: 0038124325     PISSN: 00917451     EISSN: None     Source Type: Book Series    
DOI: 10.1101/sqb.2002.67.383     Document Type: Conference Paper

References (24)

1. Blair E., Redwood C., de Jesus Oliveira M., Moolman-Smook J.C., Brink P., Corfield V.A., Ostman-Smith I., and Watkins H. 2002. Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy. Circ. Res. 90: 263.
2. Dracopoli N., Haines J.L., Korf B.R., Moir D.T., Morton C.C., Seidman C.E., Seidman J.G., and Smith D.R., Eds. 2002. Searching candidate genes for mutations. Current Protocols in human genetics, Chap. 7. Current Protocols. Wiley and Sons, New York.
3. Fatkin D., Seidman J.G., and Seidman C.E. 2000. Hypertrophic cardiomyopathy. In Cardiovascular medicine, 2nd edition (ed. J.T. Willerson and J.N. Cohn), p. 1055. Churchill Livingstone, New York.
4. Geisterfer-Lowrance A.A., Kass S., Tanigawa G., Vosberg H.P., McKenna W., Seidman C.E., and Seidman J.G. 1990. A molecular basis for familial hypertrophic cardiomyopathy: A beta cardiac myosin heavy chain gene missense mutation. Cell 62, 999.
5. Gerull B., Gramlich M., Atherton J., McNabb M., Trombitas K., Sasse-Klaassen S., Seidman J.G., Seidman C., Granzier H., Labeit S., Frenneaux M., and Thierfelder L. 2002. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat. Genet. 30: 201.
6. Gruver E.J., Fatkin D., Dodds G.A., Kisslo J., Maron B.J., Seidman J.G., and Seidman C.E. 1999. Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation. Am. J. Cardiol. 83: 13H.
7. Kimura A., Harada H., Park J.E., Nishi H., Satoh M., Takahashi M., Hiroi S., Sasaoka T., Ohbuchi N., Nakamura T., Koyanagi T., Hwang T.H., Choo J.A., Chung K.S., Hasegawa A., Nagai R., Okazaki O., Nakamura H., Matsuzaki M., Sakamoto T., Toshima H., Koga Y., Imaizumi T., and Sasazuki T. 1997. Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy. Nat. Genet. 16: 379.
8. MacRae C.A., Watkins H.C., Jarcho J.A., Thierfelder L., McKenna W.J., Seidman J.G., and Seidman C.E. 1994. An evaluation of ribonuclease protection assays for the detection of beta-cardiac myosin heavy chain gene mutations. Circulation 89: 33.
9. Maron B.J. 2002. Hypertrophic cardiomyopathy: A systematic review. J. Am. Med. Assoc. 287: 1308.
10. Niimura H., Patton K.K., McKenna W.J., Soults J., Maron B.J., Seidman J.G., and Seidman C.E. 2002. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly. Circulation 105: 446.
11. Niimura H., Bachinski L.L., Sangwatanaroj S., Watkins H., Chudley A.E., McKenna W., Kristinsson A., Roberts R., Sole M., Maron B.J., Seidman J.G., and Seidman C.E. 1998. Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N. Engl. J. Med. 338: 1248.
12. Olson T. M., Doan T.P., Kishimoto N.Y., Whitby F.G., Ackerman M.J., and Fananapazir L. 2000. Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy. J. Mol. Cell. Cardiol. 32: 1687.
13. Poetter K., Jiang H., Hassanzadeh S., Master S.R., Chang A., Dalakas M.C., Rayment I., Sellers J.R., Fananapazir L., and Epstein N.D. 1996. 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. 13: 63.
14. Rayment I., Holden H.M., Sellers J.R., Fananapazir L., and Epstein N.D. 1995. Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy. Proc. Natl. Acad. Sci. 92: 3864.
15. Seidman C.E. and Seidman J.G. 2001. Hypertrophic cardiomyopathy. In The metabolic and molecular bases of inherited disease, 8th edition (ed. C.R. Scriver et al.), vol. IV, p. 5433. McGraw-Hill Medical, New York, New York.
16. Semsarian C., Ahmad I., Giewat M., Georgakopoulos D., Schmitt J.P., McConnell B.K., Reiken S., Mende U., Marks A.R., Kass D.A., Seidman C.E., and Seidman J.G. 2002. The L-type calcium channel inhibitor diltiazem prevents cardiomyopathy in a mouse model. J. Clin. Invest. 109: 1013.
17. Spirito P., Seidman C.E., McKenna W.J., and Maron B.J. 1997. The management of hypertrophic cardiomyopathy. N. Engl. J. Med. 336: 775.
18. Thierfelder L., Watkins H., MacRae C., Lamas R., McKenna W., Vosberg H.P., Seidman J.G., and Seidman C.E. 1994. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere. Cell 77: 701.
19. Towbin J.A. 2000. Molecular genetics of hypertrophic cardiomyopathy. Curr. Cardiol. Rep. 2: 134.
20. Watkins H. 2000. Sudden death in hypertrophic cardiomyopathy. N. Engl. J. Med. 342: 422.
21. Watkins H., Rosenzweig A., Hwang D.S., Levi T., McKenna W., Seidman C.E., and Seidman J.G. 1992. Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N. Engl. J. Med. 326: 1108.
22. Watkins H., MacRae C., Thierfelder L., Chou Y.H., Frenneaux M., McKenna W., Seidman J.G., and Seidman C.E. 1993. A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3. Nat. Genet. 3: 333.
23. Watkins H., Conner D., Thierfelder L., Jarcho J.A., MacRae C., McKenna W.J., Maron B.J., Seidman J.G., and Seidman C.E. 1995. Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy. Nat. Genet. 11: 434.
24. Weiss A. and Leinwand L.A. 1996. The mammalian myosin heavy chain gene family. Annu. Rev. Cell Dev. Biol. 12: 417.