Redefining Heart Failure. The Utility of Genomics

Journal of the American College of Cardiology

Volumn 48, Issue 7, 2006, Pages 1289-1298

  Donahue, Mark P ^a   Marchuk, Douglas A ^a   Rockman, Howard A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARDIAC OUTPUT, LOW; COMORBIDITY; GENOMICS; HUMANS; PEDIGREE; PHENOTYPE; PROGNOSIS; SURVIVAL ANALYSIS;

EID: 33749022492     PISSN: 07351097     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jacc.2006.05.062     Document Type: Review

References (78)

1. McKusick V.A., and Ruddle F.H. Toward a complete map of the human genome. Genomics 1 (1987) 103-106
2. Kannel W.B., and Belanger A.J. Epidemiology of heart failure. Am Heart J 121 (1991) 951-957
3. Massie B.M., and Shah N.B. Evolving trends in the epidemiologic factors of heart failure: rationale for preventive strategies and comprehensive disease management. Am Heart J 133 (1997) 703-712
4. Haldeman G.A., Croft J.B., Giles W.H., et al. Hospitalization of patients with heart failure: National Hospital Discharge Survey, 1985 to 1995. Am Heart J 137 (1999) 352-360
5. O'Connell J.B., and Bristow M.R. Economic impact of heart failure in the United States: time for a different approach. J Heart Lung Transplant 13 (1994) S107-S112
6. Rice D.P. Beneficiary profile: yesterday, today and tomorrow. Health Care Financ Rev 18 (1996) 23-46
7. Rich M.W. Epidemiology, pathophysiology, and etiology of congestive heart failure in older adults. J Am Geriatr Soc 45 (1997) 968-974
8. Richardson P., McKenna W., Bristow M., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of Cardiomyopathies. Circulation 93 (1996) 841-842
9. Giles T.D., Chatterjee K., Cohn J.N., et al. Definition, classification, and staging of the adult cardiomyopathies: a proposal for revision. J Card Fail 10 (2004) 6-8
10. Hunt S.A., Abraham W.T., Chin M.H., et al. ACC/AHA 2005 guideline update for the diagnosis and management of chronic heart failure in the adult-summary article: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Update the 2001 Guidelines for the Evaluation and Management of Heart Failure): developed in collaboration with the American College of Chest Physicians and the International Society for Heart and Lung Transplantation: endorsed by the Heart Rhythm Society. Circulation 112 (2005) 1825-1852
11. Schena M., Shalon D., Davis R.W., et al. Quantitative monitoring of gene expression patterns with a complementary DNA microarray. Science 270 (1995) 467-470
12. Golub T.R., Slonim D.K., Tamayo P., et al. Molecular classification of cancer: class discovery and class prediction by gene expression monitoring. Science 286 (1999) 531-537
13. Alizadeh A.A., Eisen M.B., Davis R.E., et al. Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling. Nature 403 (2000) 503-511
14. Rosenwald A., Wright G., Chan W.C., et al. The use of molecular profiling to predict survival after chemotherapy for diffuse large-B-cell lymphoma. N Engl J Med 346 (2002) 1937-1947
15. van de Vijver M.J., He Y.D., van't Veer L.J., et al. A gene-expression signature as a predictor of survival in breast cancer. N Engl J Med 347 (2002) 1999-2009
16. Bild A.H., Yao G., Chang J.T., et al. Oncogenic pathway signatures in human cancers as a guide to targeted therapies. Nature 439 (2006) 353-357
17. Deng M.C., Eisen H.J., Mehra M.R., et al. Noninvasive discrimination of rejection in cardiac allograft recipients using gene expression profiling. Am J Transplant 6 (2006) 150-160
18. Sarwal M., Chua M.S., Kambham N., et al. Molecular heterogeneity in acute renal allograft rejection identified by DNA microarray profiling. N Engl J Med 349 (2003) 125-138
19. Barrans J.D., Stamatiou D., and Liew C. Construction of a human cardiovascular cDNA microarray: portrait of the failing heart. Biochem Biophys Res Commun 280 (2001) 964-969
20. Yang J., Moravec C.S., Sussman M.A., et al. Decreased SLIM1 expression and increased gelsolin expression in failing human hearts measured by high-density oligonucleotide arrays. Circulation 102 (2000) 3046-3052
21. Barrans J.D., Allen P.D., Stamatiou D., et al. Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray. Am J Pathol 160 (2002) 2035-2043
22. Tan F.L., Moravec C.S., Li J., et al. The gene expression fingerprint of human heart failure. Proc Natl Acad Sci U S A 99 (2002) 11387-11392
23. Grzeskowiak R., Witt H., Drungowski M., et al. Expression profiling of human idiopathic dilated cardiomyopathy. Cardiovasc Res 59 (2003) 400-411
24. Steenman M., Chen Y.W., Le Cunff M., et al. Transcriptomal analysis of failing and nonfailing human hearts. Physiol Genomics 12 (2003) 97-112
25. Yung C.K., Halperin V.L., Tomaselli G.F., et al. Gene expression profiles in end-stage human idiopathic dilated cardiomyopathy: altered expression of apoptotic and cytoskeletal genes. Genomics 83 (2004) 281-297
26. Steenbergen C., Afshari C.A., Petranka J.G., et al. Alterations in apoptotic signaling in human idiopathic cardiomyopathic hearts in failure. Am J Physiol Heart Circ Physiol 284 (2003) H268-H276
27. Blaxall B.C., Tschannen-Moran B.M., Milano C.A., et al. Differential gene expression and genomic patient stratification following left ventricular assist device support. J Am Coll Cardiol 41 (2003) 1096-1106
28. Chen Y., Park S., Li Y., et al. Alterations of gene expression in failing myocardium following left ventricular assist device support. Physiol Genomics 14 (2003) 251-260
29. Hall J.L., Grindle S., Han X., et al. Genomic profiling of the human heart before and after mechanical support with a ventricular assist device reveals alterations in vascular signaling networks. Physiol Genomics 17 (2004) 283-291
30. Hwang J.J., Allen P.D., Tseng G.C., et al. Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure. Physiol Genomics 10 (2002) 31-44
31. Kittleson M.M., Ye S.Q., Irizarry R.A., et al. Identification of a gene expression profile that differentiates between ischemic and nonischemic cardiomyopathy. Circulation 110 (2004) 3444-3451
32. Thum T., and Borlak J. Gene expression in distinct regions of the heart. Lancet 355 (2000) 979-983
33. Boheler K.R., Volkova M., Morrell C., et al. Sex- and age-dependent human transcriptome variability: implications for chronic heart failure. Proc Natl Acad Sci U S A 100 (2003) 2754-2759
34. Whitney A.R., Diehn M., Popper S.J., et al. Individuality and variation in gene expression patterns in human blood. Proc Natl Acad Sci U S A 100 (2003) 1896-1901
35. Grunig E., Tasman J.A., Kucherer H., et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 31 (1998) 186-194
36. Mestroni L., Rocco C., Gregori D., et al., Heart Muscle Disease Study Group. Familial dilated cardiomyopathy: evidence for genetic and phenotypic heterogeneity. J Am Coll Cardiol 34 (1999) 181-190
37. Kamisago M., Sharma S.D., DePalma S.R., et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 343 (2000) 1688-1696
38. Seidman J.G., and Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 104 (2001) 557-567
39. Chen J., and Chien K.R. Complexity in simplicity: monogenic disorders and complex cardiomyopathies. J Clin Invest 103 (1999) 1483-1485
40. Schmitt J.P., Kamisago M., Asahi M., et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299 (2003) 1410-1413
41. Taylor M.R., Fain P.R., Sinagra G., et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 41 (2003) 771-780
42. Burkett E.L., and Hershberger R.E. Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol 45 (2005) 969-981
43. Gerull B., Gramlich M., Atherton J., et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet 30 (2002) 201-204
44. Olson T.M., Kishimoto N.Y., Whitby F.G., et al. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 33 (2001) 723-732
45. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 341 (1999) 1715-1724
46. Tsubata S., Bowles K.R., Vatta M., et al. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J Clin Invest 106 (2000) 655-662
47. Olson T.M., Michels V.V., Thibodeau S.N., et al. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280 (1998) 750-752
48. Li D., Tapscoft T., Gonzalez O., et al. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Circulation 100 (1999) 461-464
49. Olson T.M., Illenberger S., Kishimoto N.Y., et al. Metavinculin mutations alter actin interaction in dilated cardiomyopathy. Circulation 105 (2002) 431-437
50. Murphy R.T., Mogensen J., Shaw A., et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363 (2004) 371-372
51. Mogensen J., Murphy R.T., Shaw T., et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 44 (2004) 2033-2040
52. Hayashi T., Arimura T., Itoh-Satoh M., et al. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J Am Coll Cardiol 44 (2004) 2192-2201
53. Vatta M., Mohapatra B., Jimenez S., et al. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol 42 (2003) 2014-2027
54. Knoll R., Hoshijima M., Hoffman H.M., et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell 111 (2002) 943-955
55. Wheeler F.C., Fernandez L., Carlson K.M., et al. QTL mapping in a mouse model of cardiomyopathy reveals an ancestral modifier allele affecting heart function and survival. Mamm Genome 16 (2005) 414-423
56. Wolf M.J., Amrein H., Izatt J.A., et al. Drosophila as a model for the identification of genes causing adult human heart disease. Proc Natl Acad Sci U S A 103 (2006) 1394-1399
57. Waldmuller S., Freund P., Mauch S., et al. Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy. Hum Mutat 19 (2002) 560-569
58. Suzuki M., Carlson K.M., Marchuk D.A., et al. Genetic modifier loci affecting survival and cardiac function in murine dilated cardiomyopathy. Circulation 105 (2002) 1824-1829
59. Le Corvoisier P., Park H.Y., Carlson K.M., et al. Multiple quantitative trait loci modify the heart failure phenotype in murine cardiomyopathy. Hum Mol Genet 12 (2003) 3097-3107
60. Gellens M.E., George Jr. A.L., Chen L.Q., et al. Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel. Proc Natl Acad Sci U S A 89 (1992) 554-558
61. Splawski I., Timothy K.W., Tateyama M., et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297 (2002) 1333-1336
62. McNair W.P., Ku L., Taylor M.R., et al. SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia. Circulation 110 (2004) 2163-2167
63. Olson T.M., Michels V.V., Ballew J.D., et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA 293 (2005) 447-454
64. Taylor A.L., Ziesche S., Yancy C., et al. Combination of isosorbide dinitrate and hydralazine in blacks with heart failure. N Engl J Med 351 (2004) 2049-2057
65. Hunt S.A., Baker D.W., Chin M.H., et al. ACC/AHA guidelines for the evaluation and management of chronic heart failure in the adult: executive summary. J Heart Lung Transplant 21 (2002) 189-203
66. Mialet P.J., Rathz D.A., Petrashevskaya N.N., et al. Beta 1-adrenergic receptor polymorphisms confer differential function and predisposition to heart failure. Nat Med 9 (2003) 1300-1305
67. Wagoner L.E., Craft L.L., Zengel P., et al. Polymorphisms of the beta1-adrenergic receptor predict exercise capacity in heart failure. Am Heart J 144 (2002) 840-846
68. McNamara D.M., Holubkov R., Janosko K., et al. Pharmacogenetic interactions between beta-blocker therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. Circulation 103 (2001) 1644-1648
69. McNamara D.M., Holubkov R., Postava L., et al. Pharmacogenetic interactions between angiotensin-converting enzyme inhibitor therapy and the angiotensin-converting enzyme deletion polymorphism in patients with congestive heart failure. J Am Coll Cardiol 44 (2004) 2019-2026
70. Rigat B., Hubert C., Alhenc-Gelas F., et al. An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86 (1990) 1343-1346
71. Terra S.G., Hamilton K.K., Pauly D.F., et al. Beta1-adrenergic receptor polymorphisms and left ventricular remodeling changes in response to beta-blocker therapy. Pharmacogenet Genomics 15 (2005) 227-234
72. Terra S.G., Pauly D.F., Lee C.R., et al. Beta-adrenergic receptor polymorphisms and responses during titration of metoprolol controlled release/extended release in heart failure. Clin Pharmacol Ther 77 (2005) 127-137
73. Magnusson Y., Levin M.C., Eggertsen R., et al. Ser49Gly of beta1-adrenergic receptor is associated with effective beta-blocker dose in dilated cardiomyopathy. Clin Pharmacol Ther 78 (2005) 221-231
74. Kaye D.M., Smirk B., Williams C., et al. Beta-adrenoceptor genotype influences the response to carvedilol in patients with congestive heart failure. Pharmacogenetics 13 (2003) 379-382
75. Giessmann T., Modess C., Hecker U., et al. CYP2D6 genotype and induction of intestinal drug transporters by rifampin predict presystemic clearance of carvedilol in healthy subjects. Clin Pharmacol Ther 75 (2004) 213-222
76. Small K.M., Wagoner L.E., Levin A.M., et al. Synergistic polymorphisms of beta1- and alpha2C-adrenergic receptors and the risk of congestive heart failure. N Engl J Med 347 (2002) 1135-1142
77. Liggett S.B., Wagoner L.E., Craft L.L., et al. The Ile164 beta-2 adrenergic polymorphism adversely affects the outcome of congestive heart failure. J Clin Invest 102 (1998) 1534-1539
78. Loh E., Rebbeck T.R., Mahoney P.D., et al. Common variant in AMPD1 gene predicts improved clinical outcome in patients with heart failure. Circulation 99 (1999) 1422-1425