Where genome meets phenome: Rationale for integrating genetic and protein biomarkers in the diagnosis and management of dilated cardiomyopathy and heart failure

Journal of the American College of Cardiology

Volumn 60, Issue 4, 2012, Pages 283-289

  Piran, Sanaz ^a   Liu, Peter ^b,d   Morales, Ana ^c   Hershberger, Ray E ^c  

^a UNIVERSITY OF TORONTO   (Canada)

^b UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^c UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^d TORONTO GENERAL HOSPITAL   (Canada)

Author keywords

biomarker; cardiomyopathy; genomics; personalized medicine; proteomics

Indexed keywords

AMINO TERMINAL PRO BRAIN NATRIURETIC PEPTIDE; BRAIN NATRIURETIC PEPTIDE; COLLAGEN; FC RECEPTOR IIA; GALECTIN 3; GELATINASE A; GELATINASE B; INTERLEUKIN 1 RECEPTOR; MATRILYSIN; MATRIX METALLOPROTEINASE; NATRIURETIC FACTOR; NEUTROPHIL COLLAGENASE; NEUTROPHIL GELATINASE ASSOCIATED LIPOCALIN; ST2; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG;

CONGESTIVE CARDIOMYOPATHY; DEVELOPMENTAL GENETICS; DISEASE MODEL; ENVIRONMENTAL FACTOR; EPIGENETICS; GENE EXPRESSION; GENE MUTATION; GENE REGULATORY NETWORK; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC VARIABILITY; GENOME; GENOME IMPRINTING; GENOMICS; GENOTYPE ENVIRONMENT INTERACTION; HEART DILATATION; HEART FAILURE; HEREDITY; HUMAN; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOME; PHENOTYPE; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PROTEIN INTERACTION; REVIEW; ULTRASOUND;

ADULT; ANIMALS; BIOLOGICAL MARKERS; CARDIOMYOPATHY, DILATED; DISEASE PROGRESSION; EPIGENOMICS; GENE EXPRESSION REGULATION; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEART FAILURE; HUMANS; INDIVIDUALIZED MEDICINE; MATRIX METALLOPROTEINASES; MICE; NATRIURETIC PEPTIDE, BRAIN; PROTEOMICS; RECEPTORS, CELL SURFACE; RISK ASSESSMENT;

EID: 84863890474     PISSN: 07351097     EISSN: 15583597     Source Type: Journal    
DOI: 10.1016/j.jacc.2012.05.005     Document Type: Review

References (61)

1. E.L. Burkett, R.E. Hershberger Clinical and genetic issues in familial dilated cardiomyopathy J Am Coll Cardiol 45 2005 969 981
2. D. Houle, D.R. Govindaraju, S. Omholt Phenomics: the next challenge Nat Rev Genet 11 2010 855 866
3. Y. Chen, J. Zhu, P.Y. Lum Variations in DNA elucidate molecular networks that cause disease Nature 452 2008 429 435
4. K.F. Adams Systems biology and heart failure: concepts, methods, and potential research applications Heart Fail Rev 15 2010 371 398
5. E. Whitelaw, D.I. Martin Retrotransposons as epigenetic mediators of phenotypic variation in mammals Nat Genet 27 2001 361 365
6. P.D. Gluckman, M.A. Hanson, C. Cooper, K.L. Thornburg Effect of in utero and early-life conditions on adult health and disease N Engl J Med 359 2008 61 73
7. A.E. Guttmacher, F.S. Collins, R.H. Carmona The family history - more important than ever N Engl J Med 351 2004 2333 2336
8. R.E. Hershberger, J. Lindenfeld, L. Mestroni Genetic evaluation of cardiomyopathy - a Heart Failure Society of America practice guideline J Card Fail 15 2009 83 97
9. R.E. Hershberger, A. Morales, J.D. Siegfried Clinical and genetic issues in dilated cardiomyopathy: a review for genetics professionals Genet Med 12 2010 655 667
10. J.D. Kushner, D. Nauman, D. Burgess Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy J Cardiac Failure 12 2006 422 429
11. V.V. Michels, P.P. Moll, F.A. Miller The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy N Engl J Med 326 1992 77 82
12. R.E. Hershberger, J.D. Siegfried State of the Art Review Update 2011: clinical and genetic issues in familial dilated cardiomyopathy J Am Coll Cardiol 57 2011 1641 1649
13. M. Kelly, C. Semsarian Multiple mutations in genetic cardiovascular disease: a marker of disease severity? Circ Cardiovasc Genet 2 2009 182 190
14. R.D. Bagnall, J. Ingles, C. Semsarian Molecular diagnostics of cardiomyopathies: the future is here Circ Cardiovasc Genet 4 2011 103 104
15. L. Dellefave, E.M. McNally The genetics of dilated cardiomyopathy Curr Opin Cardiol 25 2010 198 204
16. R.E. Hershberger, J. Cowan, A. Morales, J.D. Siegfried Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy Circ Heart Fail 2 2009 253 261
17. J.L. Jefferies, J.A. Towbin Dilated cardiomyopathy Lancet 375 2010 752 762
18. D.S. Herman, L. Lam, M.R. Taylor Truncations of titin causing dilated cardiomyopathy N Engl J Med 366 2012 619 628
19. N. Norton, P.D. Robertson, M.J. Rieder Evaluating pathogenicity of rare variants from dilated cardiomyopathy in the exome era Circ Cardiovasc Genet 5 2012 167 174
20. R.E. Hershberger, S.B. Parks, J.D. Kushner Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy Clin Translational Science 1 2008 21 26
21. R.E. Hershberger, N. Norton, A. Morales Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy Circ Cardiovasc Genet 3 2010 155 161
22. R.E. Hershberger A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy J Am Coll Cardiol 55 2010 1454 1455
23. W. Bodmer, C. Bonilla Common and rare variants in multifactorial susceptibility to common diseases Nat Genet 40 2008 695 701
24. E. Villard, C. Perret, F. Gary A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy Eur Heart J 32 2011 1065 1076
25. N. Norton, D. Li, M.J. Reider Genome-wide studies of copy number variation and exome sequencing identify rare variants in BAG3 as a cause of dilated cardiomyopathy Am J Hum Genet 88 2011 273 282
26. E. Rampersaud, D.D. Kinnamon, K. Hamilton Common susceptibility variants examined for association with dilated cardiomyopathy Ann Hum Genet 74 2010 110 116
27. B.D. Horne, K.D. Rasmusson, R. Alharethi Genome-wide significance and replication of the chromosome 12p11.22 locus near the PTHLH gene for peripartum cardiomyopathy Circ Cardiovasc Genet 4 2011 359 366
28. T.P. Cappola, M. Li, J. He Common variants in HSPB7 and FRMD4B associated with advanced heart failure Circ Cardiovasc Genet 3 2010 147 154
29. J. Schonberger, L. Wang, J.T. Shin Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss Nat Genet 37 2005 418 422
30. P. Gupta, Z.T. Bilinska, N. Sylvius Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption Basic Res Cardiol 105 2010 365 377
31. G. Felker, R. Thompson, J. Hare Underlying causes and long-term survival in patients with initially unexplained cardiomyopathy N Engl J Med 342 2000 1077 1084
32. Y. Maekawa, M. Ouzounian, M.A. Opavsky, P.P. Liu Connecting the missing link between dilated cardiomyopathy and viral myocarditis: virus, cytoskeleton, and innate immunity Circulation 115 2007 5 8
33. D. Xiong, G.H. Lee, C. Badorff Dystrophin deficiency markedly increases enterovirus-induced cardiomyopathy: a genetic predisposition to viral heart disease Nat Med 8 2002 872 877
34. M. Noutsias, H. Fechner, H. de Jonge Human coxsackie-adenovirus receptor is colocalized with integrins alpha(v)beta(3) and alpha(v)beta(5) on the cardiomyocyte sarcolemma and upregulated in dilated cardiomyopathy: implications for cardiotropic viral infections Circulation 104 2001 275 280
35. L.T. Cooper Jr., O.K. Onuma, S. Sagar Genomic and proteomic analysis of myocarditis and dilated cardiomyopathy Heart Fail Clin 6 2010 75 85
36. A.O. Gramolini, T. Kislinger, R. Alikhani-Koopaei Comparative proteomics profiling of a phospholamban mutant mouse model of dilated cardiomyopathy reveals progressive intracellular stress responses Mol Cell Proteomics 7 2008 519 533
37. B. Heidecker, E.K. Kasper, I.S. Wittstein Transcriptomic biomarkers for individual risk assessment in new-onset heart failure Circulation 118 2008 238 246
38. D. Alexander, R. Lombardi, G. Rodriguez, M.M. Mitchell, A.J. Marian Metabolomic distinction and insights into the pathogenesis of human primary dilated cardiomyopathy Eur J Clin Invest 41 2011 527 538
39. S. Hanash Disease proteomics Nature 422 2003 226 232
40. C.B. Granger, J.E. Van Eyk, S.C. Mockrin, N.L. Anderson National Heart, Lung, and Blood Institute Clinical Proteomics Working Group report Circulation 109 2004 1697 1703
41. L.B. Daniels, A.S. Maisel Natriuretic peptides J Am Coll Cardiol 50 2007 2357 2368
42. A.S. Maisel, P. Krishnaswamy, R.M. Nowak Rapid measurement of B-type natriuretic peptide in the emergency diagnosis of heart failure N Engl J Med 347 2002 161 167
43. C. Mueller, A. Scholer, K. Laule-Kilian Use of B-type natriuretic peptide in the evaluation and management of acute dyspnea N Engl J Med 350 2004 647 654
44. G.W. Moe, J. Howlett, J.L. Januzzi, H. Zowall N-terminal pro-B-type natriuretic peptide testing improves the management of patients with suspected acute heart failure: primary results of the Canadian prospective randomized multicenter IMPROVE-CHF study Circulation 115 2007 3103 3110
45. G.M. Felker, V. Hasselblad, A.F. Hernandez, C.M. O'Connor Biomarker-guided therapy in chronic heart failure: a meta-analysis of randomized controlled trials Am Heart J 158 2009 422 430
46. E.O. Weinberg, M. Shimpo, S. Hurwitz Identification of serum soluble ST2 receptor as a novel heart failure biomarker Circulation 107 2003 721 726
47. J.L. Januzzi Jr., W.F. Peacock, A.S. Maisel Measurement of the interleukin family member ST2 in patients with acute dyspnea: results from the PRIDE (Pro-Brain Natriuretic Peptide Investigation of Dyspnea in the Emergency Department) study J Am Coll Cardiol 50 2007 607 613
48. S. Manzano-Fernandez, T. Mueller, D. Pascual-Figal, Q.A. Truong, J.L. Januzzi Usefulness of soluble concentrations of interleukin family member ST2 as predictor of mortality in patients with acutely decompensated heart failure relative to left ventricular ejection fraction Am J Cardiol 107 2011 259 267
49. L. La Vecchia, G. Mezzena, L. Zanolla Cardiac troponin I as diagnostic and prognostic marker in severe heart failure J Heart Lung Transplant 19 2000 644 652
50. M.P. Hudson, C.M. O'Connor, W.A. Gattis Implications of elevated cardiac troponin T in ambulatory patients with heart failure: a prospective analysis Am Heart J 147 2004 546 552
51. R. Latini, S. Masson, I.S. Anand Prognostic value of very low plasma concentrations of troponin T in patients with stable chronic heart failure Circulation 116 2007 1242 1249
52. C.R. deFilippi, J.A. de Lemos, R.H. Christenson Association of serial measures of cardiac troponin T using a sensitive assay with incident heart failure and cardiovascular mortality in older adults JAMA 304 2010 2494 2502
53. M. Cicoira, A. Rossi, S. Bonapace Independent and additional prognostic value of aminoterminal propeptide of type III procollagen circulating levels in patients with chronic heart failure J Card Fail 10 2004 403 411
54. R. Querejeta, N. Varo, B. Lopez Serum carboxy-terminal propeptide of procollagen type I is a marker of myocardial fibrosis in hypertensive heart disease Circulation 101 2000 1729 1735
55. A.T. Yan, R.T. Yan, F.G. Spinale Plasma matrix metalloproteinase-9 level is correlated with left ventricular volumes and ejection fraction in patients with heart failure J Card Fail 12 2006 514 519
56. R.R. van Kimmenade, J.L. Januzzi Jr., P.T. Ellinor Utility of amino-terminal pro-brain natriuretic peptide, galectin-3, and apelin for the evaluation of patients with acute heart failure J Am Coll Cardiol 48 2006 1217 1224
57. N.K. Kapur, K.S. Heffernan, A.A. Yunis Usefulness of soluble endoglin as a noninvasive measure of left ventricular filling pressure in heart failure Am J Cardiol 106 2010 1770 1776
58. A. Yndestad, L. Landro, T. Ueland Increased systemic and myocardial expression of neutrophil gelatinase-associated lipocalin in clinical and experimental heart failure Eur Heart J 30 2009 1229 1236
59. A. Aghel, K. Shrestha, W. Mullens, A. Borowski, W.H. Tang Serum neutrophil gelatinase-associated lipocalin (NGAL) in predicting worsening renal function in acute decompensated heart failure J Card Fail 16 2010 49 54
60. A. Staudt, P. Eichler, C. Trimpert, S.B. Felix, A. Greinacher Fc(gamma) receptors IIa on cardiomyocytes and their potential functional relevance in dilated cardiomyopathy J Am Coll Cardiol 49 2007 1684 1692
61. R. Kuner, A.S. Barth, M. Ruschhaupt Genomic analysis reveals poor separation of human cardiomyopathies of ischemic and nonischemic etiologies Physiol Genomics 34 2008 88 94