Genetic causes of dilated cardiomyopathy

Heart

Volumn 102, Issue 24, 2016, Pages 2004-2014

  Favalli, Valentina ^a   Serio, Alessandra ^a   Grasso, Maurizia ^a   Arbustini, Eloisa ^a  

^a FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANTHROPOMETRIC PARAMETERS; ARTICLE; CARDIOVASCULAR PARAMETERS; CLINICAL FEATURE; CLINICAL GENETICS; CONGESTIVE CARDIOMYOPATHY; DISEASE CLASSIFICATION; ELECTROCARDIOGRAPHY; FAMILY HISTORY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MEDICAL EXAMINATION; MOLECULAR GENETICS; PATHOGENESIS; PRIORITY JOURNAL; PROGNOSIS; ANIMAL; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; MOLECULAR DIAGNOSIS; MUTATION; PHENOTYPE; PREDICTIVE VALUE; RISK FACTOR;

ANIMALS; CARDIOMYOPATHY, DILATED; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION; PHENOTYPE; PREDICTIVE VALUE OF TESTS; PROGNOSIS; RISK FACTORS;

EID: 84987870804     PISSN: 13556037     EISSN: 1468201X     Source Type: Journal    
DOI: 10.1136/heartjnl-2015-308190     Document Type: Article

References (86)

1. Elliott P, Andersson B, Arbustini E, 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
2. Marcus FI, McKenna WJ, Sherrill D, et al. Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria. Eur Heart J 2010; 31: 806-14
3. Charron P, Arad M, Arbustini E, 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
4. Codd MB, Sugrue DD, Gersh BJ, et al. Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation 1989; 80: 564-72
5. Morales A, Hershberger RE. Genetic evaluation of dilated cardiomyopathy. Curr Cardiol Rep 2013; 15: 375
6. Grünig E, Tasman JA, Kücherer H, et al. Frequency and phenotypes of familial dilated cardiomyopathy. J Am Coll Cardiol 1998; 31: 186-94
7. Baig MK, Goldman JH, Caforio AL, et al. Familial dilated cardiomyopathy: cardiac abnormalities are common in asymptomatic relatives and may represent early disease. J Am Coll Cardiol 1998; 31: 195-201
8. Gavazzi A, Repetto A, Scelsi L, et al. Evidence-based diagnosis of familial non-X-linked dilated cardiomyopathy. Prevalence, inheritance and characteristics. Eur Heart J 2001; 22: 73-81
9. Michels VV, Olson TM, Miller FA, et al. Frequency of development of idiopathic dilated cardiomyopathy among relatives of patients with idiopathic dilated cardiomyopathy. Am J Cardiol 2003; 91: 1389-92
10. Murphy RT, Thaman R, Blanes JG, et al. Natural history and familial characteristics of isolated left ventricular non-compaction. Eur Heart J 2005; 26: 187-92
11. Mahon NG, Murphy RT, MacRae CA, et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann Intern Med 2005; 143: 108-15
12. Caforio ALP, Mahon NG, Baig MK, et al. Prospective familial assessment in dilated cardiomyopathy: cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation 2007; 115: 76-83
13. Crispell KA, Hanson EL, Coates K, et al. Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy. J Am Coll Cardiol 2002; 39: 1503-7
14. Repetto A, Serio A, Pasotti M, et al. Rescreening of "healthy" relatives of patients with dilated cardiomyopathy identifies subgroups at risk of developing the disease. Eur Heart J Suppl 2004; 6: F54-60
15. Rapezzi C, Arbustini E, Caforio ALP, et al. Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34: 1448-58
16. 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 1999; 341: 1715-24
17. van Spaendonck-Zwarts KY, van Rijsingen IAW, van den Berg MP, et al. Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience. Eur J Heart Fail 2013; 15: 628-36
18. Arbustini E, Narula N, Dec GW, et al. The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: endorsed by the World Heart Federation. J Am Coll Cardiol 2013; 62: 2046-72
19. Repetto A, Dal Bello B, Pasotti M, et al. Coronary atherosclerosis in end-stage idiopathic dilated cardiomyopathy: an innocent bystander? Eur Heart J 2005; 26: 1519-27
20. Truong J, Yan AT, Cramarossa G, et al. Chemotherapy-induced cardiotoxicity: detection, prevention, and management. Can J Cardiol 2014; 30: 869-78
21. Wasielewski M, van Spaendonck-Zwarts KY, Westerink N-DL, et al. Potential genetic predisposition for anthracycline-Associated cardiomyopathy in families with dilated cardiomyopathy. Open Heart 2014; 1: e000116
22. Caforio AL, Pankuweit S, Arbustini E, et al. Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2013; 34: 2636-48
23. Dec GW, Arbustini E. Utilizing the MOGE(S) classification for predicting prognosis in dilated cardiomyopathy. J Am Coll Cardiol 2015; 66: 1324-6
24. Arbustini E, Morbini P, Pilotto A, et al. Familial dilated cardiomyopathy: from clinical presentation to molecular genetics. Eur Heart J 2000; 21: 1825-32
25. Pinto YM, Elliott PM, Arbustini E, 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
26. Haas J, Frese KS, Peil B, et al. Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J 2015; 36: 1123-35a
27. Grange DK, Nichols CG, Singh GK. Cantú Syndrome and Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(®). Seattle, WA: University of Washington, 1993. http://www.ncbi.nlm.nih.gov/books/NBK246980/ (accessed 8 Apr 2014
28. Wahbi K, Béhin A, Bécane HM, et al. Dilated cardiomyopathy in patients with mutations in anoctamin 5. Int J Cardiol 2013; 168: 76-9
29. Bertrand AT, Chikhaoui K, Yaou RB, et al. Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans 2011; 39: 1687-92
30. Mestroni L, Brun F, Spezzacatene A, et al. Genetic causes of dilated cardiomyopathy. Prog Pediatr Cardiol 2014; 37: 13-18
31. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol 2013; 10: 531-47
32. Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. J Hum Genet 2016; 61: 41-50
33. Schlossarek S, Frey N, Carrier L. Ubiquitin-proteasome system and hereditary cardiomyopathies. J Mol Cell Cardiol 2014; 71: 25-31
34. Quarta G, Syrris P, Ashworth M, et al. Mutations in the lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur Heart J 2012; 33: 1128-36
35. Arbustini E, Weidemann F, Hall JL. Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases? J Am Coll Cardiol 2014; 64: 1840-50
36. Arbustini E, Pilotto A, Repetto A, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol 2002; 39: 981-90
37. Koch AJ, Holaska JM. Emerin in health and disease. Semin Cell Dev Biol 2014; 29: 95-106
38. van Berlo JH, de Voogt WG, van der Kooi AJ, et al. Meta-Analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 2005; 83: 79-83
39. van Rijsingen IAW, Arbustini E, Elliott PM, 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
40. Nigro G, Russo V, Ventriglia VM, et al. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromusc Dis 2010; 20: 174-7
41. Brega A, Narula J, Arbustini E. Functional, structural, and genetic mitochondrial abnormalities in myocardial diseases. J Nucl Cardiol 2001; 8: 89-97
42. Arbustini E, Diegoli M, Fasani R, et al. Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 1998; 153: 1501-10
43. Arbustini E, Fasani R, Morbini P, et al. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998; 80: 548-58
44. El-Hattab AW, Scaglia F. Disorders of carnitine biosynthesis and transport. Mol Genet Metab 2015; 116: 107-12
45. Kishnani PS, BurnsWechsler S, Li JS. Enzyme-deficiency metabolic cardiomyopathies and the role of enzyme replacement therapy. Prog Pediatr Cardiol 2007; 23: 39-48
46. Leviner DB, Hochhauser E, Arad M. Inherited cardiomyopathies-novel therapies. Pharmacol Ther 2015; 155: 36-48
47. Chauveau C, Rowell J, Ferreiro A. A rising titan: TTN review and mutation update. Hum Mutat. 2014; 35: 1046-59
48. Perry NA, Ackermann MA, Shriver M, et al. Obscurins: unassuming giants enter the spotlight. IUBMB Life 2013; 65: 479-86
49. Meder B, Haas J, Keller A, et al. Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies. Circ Cardiovasc Genet 2011; 4: 110-22
50. Zaragoza MV, Fass J, Diegoli M, et al. Mitochondrial DNA variant discovery and evaluation in human cardiomyopathies through next-generation sequencing. PLoS ONE 2010; 5: e12295
51. Mogensen J, van Tintelen JP, Fokstuen S, et al. The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics. Eur Heart J 2015; 36: 1367-70
52. Steinbock LJ, Radenovic A. The emergence of nanopores in next-generation sequencing. Nanotechnology 2015; 26: 074003
53. Pasotti M, Klersy C, Pilotto A, et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008; 52: 1250-60
54. Fressart V, Duthoit G, Donal E, et al. Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice. Europace 2010; 12: 861-8
55. den Haan AD, Tan BY, Zikusoka MN, et al. Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. Circ Cardiovasc Genet 2009; 2: 428-35
56. van der Zwaag PA, Jongbloed JD, van den Berg MP, et al. A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy. Hum Mutat 2009; 30: 1278-83
57. Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP), Seattle, WA. h ttp://evs.gs.washington.edu/EVS/)/ (accessed 24 Aug 2016
58. Herman DS, Lam L, Taylor MRG, et al. Truncations of titin causing dilated cardiomyopathy. N Engl J Med 2012; 366: 619-28
59. 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 2003; 42: 2014-27
60. Levitas A, Konstantino Y, Muhammad E, et al. D117N in Cypher/ZASP may not be a causative mutation for dilated cardiomyopathy and ventricular arrhythmias. Eur J Hum Genet 2016; 24: 666-71
61. Marziliano N, Mannarino S, Nespoli L, et al. Barth syndrome associated with compound hemizygosity and heterozygosity of the TAZ and LDB3 genes. Am J Med Genet A 2007; 143A: 907-15
62. Narula N, Favalli V, Tarantino P, et al. Quantitative expression of the mutated lamin A/C gene in patients with cardiolaminopathy. J Am Coll Cardiol. 2012; 60: 1916-20
63. Darras BT, Miller DT, Urion DK. Dystrophinopathies. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(®). Seattle, WA: University of Washington, Seattle 1993-2015. 2000 Sep 05 (updated 26 November 2014). http://www.ncbi.nlm.nih.gov/books/NBK1119/ (accessed 24 Aug 2016
64. Ferreira C, Thompson R, Vernon H. Barth syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(®). Seattle, WA: University of Washington, Seattle 1993-2015. 9 October 2014. http://www.ncbi.nlm.nih.gov/books/NBK247162/ (accessed 24 Aug 2016
65. Arbustini E, Narula N, Tavazzi L, et al. The MOGE(S) classification of cardiomyopathy for clinicians. J Am Coll Cardiol 2014; 64: 304-18
66. Verma J, Thomas DC, Sharma S, et al. Inherited metabolic disorders: prenatal diagnosis of lysosomal storage disorders. Prenat Diagn 2015; 35: 1137-47
67. DiMauro S, Hirano M. MELAS. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews(®). Seattle, WA: University of Washington, Seattle 1993-2015. 27 February 2001 (updated 21 November 2013). http://www.ncbi.nlm.nih.gov/books/NBK1233/ (accessed 24 Aug 2016
68. Skirton H, Goldsmith L, Jackson L, et al. Offering prenatal diagnostic tests: European guidelines for clinical practice [corrected]. Eur J Hum Genet 2014; 22: 580-6
69. Non-invasive Prenatal Testing: A Review of the Cost Effectiveness and Guidelines. Ottawa (ON): Canadian Agency for Drugs and Technologies in Health 2014. http://www.ncbi.nlm.nih.gov/books/NBK274056/ (accessed 24 Aug 2016
70. van der Zwaag PA, van Rijsingen IA, de Ruiter R, et al. Recurrent and founder mutations in the Netherlands-Phospholamban p. Arg14del mutation causes arrhythmogenic cardiomyopathy. Neth Heart J 2013; 21: 286-93
71. Diegoli M, Grasso M, Favalli V, et al. Diagnostic work-up and risk stratification in X-linked dilated cardiomyopathies caused by dystrophin defects. J Am Coll Cardiol. 2011; 58: 925-34
72. Priori SG, Blomström-Lundqvist C, Mazzanti A, et al. 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC) Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). Eur Heart J 2015; 36: 2793-867
73. van der Zwaag PA, van Rijsingen IA, Asimaki A, et al. Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic cardiomyopathy. Eur J Heart Fail 2012; 14: 1199-207
74. van Rijsingen IA, van der Zwaag PA, Groeneweg JA, et al. Outcome in phospholamban R14del carriers: results of a large multicentre cohort study. Circ Cardiovasc Genet 2014; 7: 455-65
75. Merlo M, Sinagra G, Carniel E, et al. Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. Clin Transl Sci 2013; 6: 424-8
76. Garc?a-Giustiniani D, Arad M, Ort?z-Genga M, et al. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain. Heart 2015; 101: 1047-53
77. Chami N, Tadros R, Lemarbre F, et al. Nonsense mutations in BAG3 are associated with early-onset dilated cardiomyopathy in French Canadians. Can J Cardiol 2014; 30: 1655-61
78. Pilichou K, Thiene G, Bauce B, et al. Arrhythmogenic cardiomyopathy. Orphanet J Rare Dis 2016; 11: 33
79. McNally EM, Kaltman JR, Benson DW, et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Working Group of The National Heart, Lung, and Blood Institute in collaboration with Parent Project Muscular Dystrophy. Circulation 2015; 131: 1590-8
80. Brandsema JF, Darras BT. Dystrophinopathies. Semin Neurol 2015; 35: 369-84
81. Strach K, Reimann J, Thomas D, et al. ZASPopathy with childhood-onset distal myopathy. J Neurol 2012; 259: 1494-6
82. Papadopoulos C, Papadimas GK, Kekou K, et al. Caveolinopathies in Greece. Neurologist 2015; 20: 8-12
83. McKenna T, Sola Carvajal A, Eriksson M. Skin disease in laminopathy-Associated premature aging. J Invest Dermatol 2015; 135: 2577-83
84. Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol 2015; 39: 13-19
85. Agarwal A, Yousefzai R, Jan MF, et al. Clinical application of WHF-MOGE(S) classification for hypertrophic cardiomyopathy. Glob Heart 2015; 10: 209-19
86. Hazebroek MR, Moors S, Dennert R, et al. Prognostic relevance of gene-environment interactions in patients with dilated cardiomyopathy: applying the MOGE(S) classification. J Am Coll Cardiol 2015; 66: 1313-23