Genetics and genomics of dilated cardiomyopathy and systolic heart failure

Genome Medicine

Volumn 9, Issue 1, 2017, Pages

  Tayal, Upasana ^a,b   Prasad, Sanjay ^a,b   Cook, Stuart A ^a,c  

^a NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^b ROYAL BROMPTON HOSPITAL   (United Kingdom)

^c NATIONAL UNIVERSITY HOSPITAL   (Singapore)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN;

CONGESTIVE CARDIOMYOPATHY; DISEASE COURSE; ENZYME POLYMORPHISM; GENE; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HEREDITY; HUMAN; NEXT GENERATION SEQUENCING; NONHUMAN; PATIENT CARE; PHENOTYPE; REVIEW; RISK ASSESSMENT; SYSTOLIC HEART FAILURE; TITIN GENE; TRANSLATIONAL PROTEIN MODIFICATION; ANIMAL; CARDIOMYOPATHY, DILATED; DISEASE MANAGEMENT; GENETIC PREDISPOSITION; GENETICS; HEART FAILURE, SYSTOLIC;

ANIMALS; CARDIOMYOPATHY, DILATED; DISEASE MANAGEMENT; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOMICS; HEART FAILURE, SYSTOLIC; HUMANS;

EID: 85013742454     PISSN: None     EISSN: 1756994X     Source Type: Journal    
DOI: 10.1186/s13073-017-0410-8     Document Type: Review

References (84)

1. Ziaeian B, Fonarow GC. Epidemiology and aetiology of heart failure. Nat Rev Cardiol. 2016;13:368-78.
2. The International Society for Heart and Lung Transplantation. International Society of Heart and Lung Transplantation Quarterly Report. 2015 edition.
3. Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. Circulation. 2006;113:1807-16.
4. Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008;29:270-6.
5. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013;10:531-47.
6. Cahill TJ, Ashrafian H, Watkins H. Genetic cardiomyopathies causing heart failure. Circ Res. 2013;113:660-75.
7. Lekavich CL, Barksdale DJ, Neelon V, Wu JR. Heart failure preserved ejection fraction (HFpEF): an integrated and strategic review. Heart Fail Rev. 2015;20:643-53.
8. Ponikowski P, Voors AA, Anker SD, Bueno H, Cleland JG, Coats AJ, et al. 2016 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: The Task Force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC) Developed with the special contribution of the Heart Failure Association (HFA) of the ESC. Eur Heart J. 2016;37:2129-200.
9. Gulati A, Jabbour A, Ismail TF, Guha K, Khwaja J, Raza S, et al. Association of fibrosis with mortality and sudden cardiac death in patients with nonischemic dilated cardiomyopathy. JAMA. 2013;309:896-908.
10. Køber L, Thune JJ, Nielsen JC, Haarbo J, Videbæk L, Korup E, et al. Defibrillator implantation in patients with nonischemic systolic heart failure. N Engl J Med. 2016;375:1221-30.
11. McMurray JJV, Packer M, Desai AS, Gong J, Lefkowitz MP, Rizkala AR, et al. Angiotensin-neprilysin inhibition versus enalapril in heart failure. N Engl J Med. 2014;371:993-1004.
12. Liu LCY, Voors AA, Valente MAE, van der Meer P. A novel approach to drug development in heart failure: towards personalized medicine. Can J Cardiol. 2014;30:288-95.
13. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285-91.
14. Petretta M, Pirozzi F, Sasso L, Paglia A, Bonaduce D. Review and metaanalysis of the frequency of familial dilated cardiomyopathy. Am J Cardiol. 2011;108:1171-6.
15. Nouhravesh N, Ahlberg G, Ghouse J, Andreasen C, Svendsen JH, Haunso S, et al. Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy. Mol Genet Genomic Med. 2016;4:617-23.
16. Walsh R, Thomson KL, Ware JS, Funke BH, Woodley J, McGuire KJ, et al. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2017;19:192-203.
17. Gibson G. Rare and common variants: twenty arguments. Nat Rev Genet. 2012;13:135-45.
18. Whiffin N, Minikel E, Walsh R, O'Donnell-Luria A, Karczewski K, Ing AY, et al. Using high-resolution variant frequencies to empower clinical genome interpretation. bioRxiv. 2016. https://doi.org/10.1101/073114.
19. Frequency Filter: Using high-resolution variant frequencies to empower clinical genome interpretation. https://cardiodb.org/allelefrequencyapp. Accessed 8 Feb 2017.
20. Cole G, Dhutia N, Shun-Shin M, Willson K, Harrison J, Raphael C, et al. Defining the real-world reproducibility of visual grading of left ventricular function and visual estimation of left ventricular ejection fraction: impact of image quality, experience and accreditation. Int J Cardiovasc Imaging. 2015;31:1-12.
21. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet. 2014;133:1-9.
22. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, et al. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42:D980-5.
23. Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat. 2016;37:235-41.
24. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-23.
25. Lee DS, Pencina MJ, Benjamin EJ, Wang TJ, Levy D, O'Donnell CJ, et al. Association of parental heart failure with risk of heart failure in offspring. N Engl J Med. 2006;355:138-47.
26. Dorn GW. Genetics of common forms of heart failure. Curr Opin Cardiol. 2011;26:204-8.
27. MacRae CA. The genetics of congestive heart failure. Heart Fail Clin. 2010;6:223-30.
28. Bai Y, Wang L, Hu S, Wei Y. Association of angiotensin-converting enzyme I/D polymorphism with heart failure: a meta-analysis. Mol Cell Biochem. 2012;361:297-304.
29. Borjesson M, Magnusson Y, Hjalmarson A, Andersson B. A novel polymorphism in the gene coding for the beta(1)-adrenergic receptor associated with survival in patients with heart failure. Eur Heart J. 2000;21:1853-8.
30. White HL, de Boer RA, Maqbool A, Greenwood D, van Veldhuisen DJ, Cuthbert R, et al. An evaluation of the beta-1 adrenergic receptor Arg389Gly polymorphism in individuals with heart failure: a MERIT-HF sub-study. Eur J Heart Fail. 2003;5:463-8.
31. Liu W-N, Fu K-L, Gao H-Y, Shang Y-Y, Wang Z-H, Jiang G-H, et al. β1 adrenergic receptor polymorphisms and heart failure: a meta-analysis on susceptibility, response to β-blocker therapy and prognosis. PLoS One. 2012;7:e37659.
32. Smith NL, Felix JF, Morrison AC, Demissie S, Glazer NL, Loehr LR, et al. Association of genome-wide variation with the risk of incident heart failure in adults of European and African ancestry: a prospective meta-analysis from the cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. Circ Cardiovasc Genet. 2010;3:256-66.
33. Parsa A, Chang YP, Kelly RJ, Corretti MC, Ryan KA, Robinson SW, et al. Hypertrophy-associated polymorphisms ascertained in a founder cohort applied to heart failure risk and mortality. Clin Transl Sci. 2011;4:17-23.
34. Del Greco MF, Pattaro C, Luchner A, Pichler I, Winkler T, Hicks AA, et al. Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster. Hum Mol Genet. 2011;20:1660-71.
35. Fox ER, Musani SK, Barbalic M, Lin H, Yu B, Ogunyankin KO, et al. Genome-wide association study of cardiac structure and systolic function in African Americans: the Candidate Gene Association Resource (CARe) study. Circ Cardiovasc Genet. 2013;6:37-46.
36. van der Harst P, van Setten J, Verweij N, Vogler G, Franke L, Maurano MT, et al. 52 Genetic loci influencing myocardial mass. J Am Coll Cardiol. 2016;68:1435-48.
37. Friedrichs F, Zugck C, Rauch GJ, Ivandic B, Weichenhan D, Muller-Bardorff M, et al. HBEGF, SRA1, and IK: three cosegregating genes as determinants of cardiomyopathy. Genome Res. 2009;19:395-403.
38. Cappola TP, Li M, He J, Ky B, Gilmore J, Qu L, et al. Common variants in HSPB7 and FRMD4B associated with advanced heart failure. Circ Cardiovasc Genet. 2010;3:147-54.
39. Villard E, Perret C, Gary F, Proust C, Dilanian G, Hengstenberg C, et al. A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy. Eur Heart J. 2011;32:1065-76.
40. Garnier S, Hengstenberg C, Lamblin N, Dubourg O, De Groote P, Fauchier L, et al. Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: results of a European collaboration assembling more than 2000 patients. Int J Cardiol. 2015;189:105-7.
41. Stark K, Esslinger UB, Reinhard W, Petrov G, Winkler T, Komajda M, et al. Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. PLoS Genet. 2010;6:e1001167.
42. Cappola TP, Matkovich SJ, Wang W, van Booven D, Li M, Wang X, et al. Loss-of-function DNA sequence variant in the CLCNKA chloride channel implicates the cardio-renal axis in interindividual heart failure risk variation. Proc Natl Acad Sci U S A. 2011;108:2456-61.
43. Mestroni L, Brun F, Spezzacatene A, Sinagra G, Taylor MR. Genetic causes of dilated cardiomyopathy. Prog Pediatr Cardiol. 2014;37:13-8.
44. Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J. 2015;36:1123-35a.
45. Norton N, Li D, Rieder MJ, Siegfried JD, Rampersaud E, Zuchner S, et al. 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. 2011;88:273-82.
46. Guo W, Schafer S, Greaser ML, Radke MH, Liss M, Govindarajan T, et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat Med. 2012;18:766-73.
47. Beqqali A, Bollen IA, Rasmussen TB, van den Hoogenhof MM, van Deutekom HW, Schafer S, et al. A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism. Cardiovasc Res. 2016;112:452-63.
48. Brauch KM, Karst ML, Herron KJ, de Andrade M, Pellikka PA, Rodeheffer RJ, et al. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. J Am Coll Cardiol. 2009;54:930-41.
49. Li D, Morales A, Gonzalez-Quintana J, Norton N, Siegfried JD, Hofmeyer M, et al. Identification of novel mutations in RBM20 in patients with dilated cardiomyopathy. Clin Transl Sci. 2010;3:90-7.
50. Refaat MM, Lubitz SA, Makino S, Islam Z, Frangiskakis JM, Mehdi H, et al. Genetic variation in the alternative splicing regulator RBM20 is associated with dilated cardiomyopathy. Heart Rhythm. 2012;9:390-6.
51. Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, et al. Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013;93:67-77.
52. de Leeuw N, Houge G. Loss of PRDM16 is unlikely to cause cardiomyopathy in 1p36 deletion syndrome. Am J Hum Genet. 2014;94:153-4.
53. Buyandelger B, Mansfield C, Kostin S, Choi O, Roberts AM, Ware JS, et al. ZBTB17 (MIZ1) is important for the cardiac stress response and a novel candidate gene for cardiomyopathy and heart failure. Circ Cardiovasc Genet. 2015;8:643-52.
54. Knoll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, et al. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002;111:943-55.
55. Zhang XL, Dai N, Tang K, Chen YQ, Chen W, Wang J, et al. GATA5 loss-of-function mutation in familial dilated cardiomyopathy. Int J Mol Med. 2015;35:763-70.
56. Zhao CM, Bing-Sun, Song HM, Wang J, Xu WJ, Jiang JF, et al. TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. Clin Chem Lab Med. 2016;54:325-32.
57. Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang YQ, Qiu XB. A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. Int J Mol Med. 2015;36:282-8.
58. Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, et al. GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. Int J Mol Med. 2014;34:1315-22.
59. Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng HZ, et al. A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. Int J Mol Med. 2014;33:654-60.
60. Yuan F, Qiu XB, Li RG, Qu XK, Wang J, Xu YJ, et al. A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. Int J Mol Med. 2015;35:478-86.
61. Akinrinade O, Ollila L, Vattulainen S, Tallila J, Gentile M, Salmenpera P, et al. Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathy. Eur Heart J. 2015;36:2327-37.
62. Garcia-Pavia P, Syrris P, Salas C, Evans A, Mirelis JG, Cobo-Marcos M, et al. Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study. Heart. 2011;97:1744-52.
63. Christensen AH, Kamstrup PR, Gandjbakhch E, Benn M, Jensen JS, Bundgaard H, et al. Plakophilin-2 c.419C > T and risk of heart failure and arrhythmias in the general population. Eur J Hum Genet. 2016;24:732-8.
64. Begay RL, Tharp CA, Martin A, Graw SL, Sinagra G, Miani D, et al. FLNC gene splice mutations cause dilated cardiomyopathy. JACC Basic Transl Sci. 2016;1:344-59.
65. Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, et al. Truncating FLNC mutations are associated with high-risk dilated and arrhythmogenic cardiomyopathies. J Am Coll Cardiol. 2016;68:2440-51.
66. Gerull B, Gramlich M, Atherton J, McNabb M, Trombitas K, Sasse-Klaassen S, et al. Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy. Nat Genet. 2002;30:201-4.
67. Herman DS, Lam L, Taylor MR, Wang L, Teekakirikul P, Christodoulou D, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med. 2012;366:619-28.
68. Roberts AM, Ware JS, Herman DS, Schafer S, Baksi J, Bick AG, et al. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015;7:270ra276.
69. Jansweijer JA, Nieuwhof K, Russo F, Hoorntje ET, Jongbloed JD, Lekanne Deprez RH, et al. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy. Eur J Heart Fail. 2016. doi: 10.1002/ejhf.673.
70. Hinson JT, Chopra A, Nafissi N, Polacheck WJ, Benson CC, Swist S, et al. Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy. Science. 2015;349:982-6.
71. Schafer S, de Marvao A, Adami E, Fiedler LR, Ng B, Khin E, et al. Titin-truncating variants affect heart function in disease cohorts and the general population. Nat Genet. 2017;49:46-53.
72. Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, et al. Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet. 2013;21:1105-11.
73. Meder B, Ruhle F, Weis T, Homuth G, Keller A, Franke J, et al. A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy. Eur Heart J. 2014;35:1069-77.
74. Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016;351:617-21.
75. Long C, Amoasii L, Mireault AA, McAnally JR, Li H, Sanchez-Ortiz E, et al. Postnatal genome editing partially restores dystrophin expression in a mouse model of muscular dystrophy. Science. 2016;351:400-3.
76. Pua CJ, Bhalshankar J, Miao K, Walsh R, John S, Lim SQ, et al. Development of a comprehensive sequencing assay for inherited cardiac condition genes. J Cardiovasc Transl Res. 2016;9:3-11.
77. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, et al. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014;16:601-8.
78. Titin variants in dilated cardiomyopathy. https://cardiodb.org/titin. Accessed 8 Feb 2017.
79. Ware JS, Li J, Mazaika E, Yasso CM, DeSouza T, Cappola TP, et al. Shared genetic predisposition in peripartum and dilated cardiomyopathies. N Engl J Med. 2016;374:233-41.
80. Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2010;31:2715-26.
81. van Rijsingen IA, Arbustini E, Elliott PM, Mogensen J, Hermans-van Ast JF, van der Kooi AJ, et al. Risk factors for malignant ventricular arrhythmias in lamin a/c mutation carriers a European cohort study. J Am Coll Cardiol. 2012;59:493-500.
82. Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Bohm M, et al. Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J. 2016;37:1850-8.
83. Captur G, Lopes LR, Mohun TJ, Patel V, Li C, Bassett P, et al. Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy. Circ Cardiovasc Imaging. 2014;7:863-71.
84. Ho CY, Abbasi SA, Neilan TG, Shah RV, Chen Y, Heydari B, et al. T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. Circ Cardiovasc Imaging. 2013;6:415-22.