Genetics in dilated cardiomyopathy

Biomarkers in Medicine

Volumn 7, Issue 4, 2013, Pages 517-533

  Garcia Pavia, Pablo ^a   Cobo Marcos, Marta ^a   Guzzo Merello, Gonzalo ^a   Gomez Bueno, Manuel ^a   Bornstein, Belen ^a   Lara Pezzi, Enrique ^b   Segovia, Javier ^a   Alonso Pulpon, Luis ^a  

^a HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^b CENTRO NACIONAL DE INVESTIGACIONES CARDIOVASCULARES CNIC   (Spain)

Author keywords

dilated cardiomyopathy; genes; genetics; mutation

Indexed keywords

ALPHA ACTININ 2; ALPHA CRYSTALLIN; ALPHA TROPOMYOSIN; BETA 1 ADRENERGIC RECEPTOR; BETA 2 ADRENERGIC RECEPTOR; CARDIOTROPHIN 1; CONNECTIN; COXSACKIE VIRUS AND ADENOVIRUS RECEPTOR; DESMIN; DESMOCOLLIN; DESMOGLEIN; DESMOPLAKIN; DYSTROPHIN; EMERIN; FUKUTIN; FUKUTIN RELATED PROTEIN; LAMIN A; LAMIN C; LAMININ ALPHA2; LAMININ ALPHA4; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN BETA; PHOSPHOLAMBAN; PLAKOGLOBIN; PLAKOPHILIN; PRESENILIN 1; PRESENILIN 2; TROPONIN C; TROPONIN I;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL JUNCTION; CONGESTIVE CARDIOMYOPATHY; ENERGY EXPENDITURE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HEART MUSCLE CONTRACTILITY; HEREDITY; HUMAN; MITOCHONDRION; MUTATION RATE; MYOFILAMENT; NONHUMAN; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW; SARCOMERE; THIN FILAMENT; X CHROMOSOMAL INHERITANCE;

ANIMALS; CALCIUM; CARDIOMYOPATHY, DILATED; CYTOSKELETAL PROTEINS; ENERGY METABOLISM; HUMANS; MUSCLE CONTRACTION;

EID: 84881309224     PISSN: 17520363     EISSN: 17520371     Source Type: Journal    
DOI: 10.2217/bmm.13.77     Document Type: Review

References (100)

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. 29(2), 270-276 (2008
2. Sugrue DD, Rodeheffer RJ, Codd MB et al. The clinical course of idiopathic dilated cardiomyopathy. A population-based study. Ann. Intern. Med. 117(2), 117-123 (1992
3. Stehlik J, Edwards LB, Kucheryavaya AY et al. The Registry of the International Society for Heart and Lung Transplantation: 29th official adult heart transplant report-2012. J. Heart Lung Transplant. 31(10), 1052-1064 (2012
4. Michels VV, Driscoll DJ, Miller FA Jr. Familial aggregation of idiopathic dilated cardiomyopathy. Am. J. Cardiol. 55(9), 1232-1233 (1985
5. Michels VV, Moll PP, Miller FA et al. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy. N. Engl. J. Med. 326(2), 77-82 (1992
6. Burkett EL, Hershberger RE. Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 45(7), 969-981 (2005
7. Mahon NG, Murphy RT, MacRae CA et al. Echocardiographic evaluation in asymptomatic relatives of patients with dilated cardiomyopathy reveals preclinical disease. Ann. Intern. Med. 143(2), 108-115 (2005
8. 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. 31(22), 2715-2726 (2010
9. Hershberger RE, Lindenfeld J, Mestroni L et al. Genetic evaluation of cardiomyopathy-A Heart Failure Society of America practice guideline. J. Card. Fail. 15(2), 83-97 (2009
10. Mestroni L, Maisch B, McKenna WJ et al. Guidelines for the study of familial dilated cardiomyopathies. Collaborative Research Group of the European Human and Capital Mobility Project on Familial Dilated Cardiomyopathy. Eur. Heart J. 20(2), 93-102 (1999
11. Herman DS, Lam L, Taylor MR et al. Truncations of titin causing dilated cardiomyopathy. N. Engl. J. Med. 366(7), 619-628 (2012
12. Lakdawala NK, Winterfield JR, Funke BH. Dilated cardiomyopathy. Circ. Arrhythm. Electrophysiol. 6(1), 228-237 (2013
13. Hershberger RE, Parks SB, Kushner JD et al. Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin. Transl. Sci. 1(1), 21-26 (2008
14. Gallardo ME, Garcia-Pavia P, Chamorro R et al. Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients. Eur. Heart J. 33(3), 346-353 (2012
15. Hershberger RE, Siegfried JD. Update 2011: Clinical and genetic issues in familial dilated cardiomyopathy. J. Am. Coll. Cardiol. 57(16), 1641-1649 (2011
16. Ware JS, Roberts AM, Cook SA. Next generation sequencing for clinical diagnostics and personalised medicine: Implications for the next generation cardiologist. Heart 98(4), 276-281 (2012
17. Tester DJ, Ackerman MJ. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation 123(9), 1021-1037 (2011
18. Palmucci L, Mongini T, Chiado-Piat L, Doriguzzi C, Fubini A. Dystrophinopathy expressing as either cardiomyopathy or Becker dystrophy in the same family. Neurology 54(2), 529-530 (2000
19. Cobo-Marcos M, Cuenca S, Gámez Martínez JM, Bornstein B, Ripoll Vera T, Garcia-Pavia P Usefulness of genetic testing for hypertrophic cardiomyopathy in real-world practice. Rev. Esp. Cardiol. doi:10.1016/j. recesp.2013.04.004 (2013) (Epub ahead of print
20. Garcia-Pavia P, Vazquez ME, Segovia J et al. Genetic basis of end-stage hypertrophic cardiomyopathy. Eur. J. Heart Fail. 13(11), 1193-1201 (2011
21. Kaski JP, Syrris P, Burch M et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 94(11), 1478-1484 (2008
22. Frazier AH, Ramirez-Correa GA, Murphy AM. Molecular mechanisms of sarcomere dysfunction in dilated and hypertrophic cardiomyopathy. Prog. Pediatr. Cardiol. 31(1), 29-33 (2011
23. Morimoto S. Sarcomeric proteins and inherited cardiomyopathies. Cardiovasc. Res. 77(4), 659-666 (2008
24. Bodor GS, Oakeley AE, Allen PD et al. Troponin I phosphorylation in the normal and failing adult human heart. Circulation 96(5), 1495-1500 (1997
25. Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT. Actin mutations in dilated cardiomyopathy, a heritable form of heart failure. Science 280(5364), 750-752 (1998
26. Kamisago M, Sharma SD, DePalma SR et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N. Engl. J. Med. 343(23), 1688-1696 (2000
27. Mogensen J, Murphy RT, 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(10), 2033-2040 (2004
28. Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-Tropomyosin are associated with dilated cardiomyopathy. J. Mol. Cell. Cardiol. 33(4), 723-732 (2001
29. Murphy RT, Mogensen J, Shaw A et al. Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy. Lancet 363(9406), 371-372 (2004
30. Rajan S, Ahmed RP, Jagatheesan G et al. Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity. Circ. Res. 101(2), 205-214 (2007
31. Lakdawala NK, Funke BH, Baxter S et al. Genetic testing for dilated cardiomyopathy in clinical practice. J. Card. Fail. 18(4), 296-303 (2012
32. Granzier H, Wu Y, Siegfried L, LeWinter M. Titin: Physiological function and role in cardiomyopathy and failure. Heart Fail. Rev. 10(3), 211-223 (2005
33. Guo W, Bharmal SJ, Esbona K, Greaser ML. Titin diversity-Alternative splicing gone wild. J. Biomed. Biotechnol. 2010, 753675 (2010
34. McNally EM, Golbus JR, Puckelwartz MJ. Genetic mutations and mechanisms in dilated cardiomyopathy. J. Clin. Invest. 123(1), 19-26 (2013
35. Lukong KE, Chang KW, Khandjian EW, Richard S. RNA-binding proteins in human genetic disease. Trends Genet. 24(8), 416-425 (2008
36. Guo W, Schafer S, Greaser ML et al. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Nat. Med. 18(5), 766-773 (2012
37. Joseph C, Stier G, O'Brien R et al. A structural characterization of the interactions between titin Z-repeats and the alpha-Actinin C-Terminal domain. Biochemistry 40(16), 4957-4965 (2001
38. Homma S, Iwasaki M, Shelton GD et al. BAG3 deficiency results in fulminant myopathy and early lethality. Am. J. Pathol. 169(3), 761-773 (2006
39. Hishiya A, Kitazawa T, Takayama S. BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. Circ. Res. 107(10), 1220-1231 (2010
40. Hishiya A, Salman MN, Carra S, Kampinga HH, Takayama S. BAG3 directly interacts with mutated alphaB-crystallin to suppress its aggregation and toxicity. PLoS ONE 6(3), e16828 (2011
41. Arimura T, Ishikawa T, Nunoda S, Kawai S, Kimura A. Dilated cardiomyopathy-Associated BAG3 mutations impair Z-disc assembly and enhance sensitivity to apoptosis in cardiomyocytes. Hum. Mutat. 32(12), 1481-1491 (2011
42. Odgerel Z, Sarkozy A, Lee HS et al. Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation. Neuromuscul. Disord. 20(7), 438-442 (2010
43. Zheng M, Cheng H, Li X et al. Cardiac-specific ablation of cypher leads to a severe form of dilated cardiomyopathy with premature death. Hum. Mol. Genet. 18(4), 701-713 (2009
44. 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(11), 2014-2027 (2003
45. Theis JL, Bos JM, Bartleson VB et al. Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 351(4), 896-902 (2006
46. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ et al. Primary structure of dystrophin-Associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355(6362), 696-702 (1992
47. Woolf PJ, Lu S, Cornford-Nairn R et al. Alterations in dihydropyridine receptors in dystrophin-deficient cardiac muscle. Am. J. Physiol. Heart Circ. Physiol. 290(6), H2439-H2445 (2006
48. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: One gene, several proteins, multiple phenotypes. Lancet Neurol. 2(12), 731-740 (2003
49. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr. Opin. Cardiol. 12(3), 329-343 (1997
50. Melacini P, Fanin M, Danieli GA et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 94(12), 3168-3175 (1996
51. Backman E, Nylander E. The heart in Duchenne muscular dystrophy: A non-invasive longitudinal study. Eur. Heart J. 13(9), 1239-1244 (1992
52. Kirchmann C, Kececioglu D, Korinthenberg R, Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr. Cardiol. 26(1), 66-72 (2005
53. Jefferies JL, Eidem BW, Belmont JW et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 112(18), 2799-2804 (2005
54. Finsterer J, Stollberger C. Cardiac involvement in Becker muscular dystrophy. Can. J. Cardiol. 24(10), 786-792 (2008
55. Nigro G, Comi LI, Politano L et al. Evaluation of the cardiomyopathy in Becker muscular dystrophy. Muscle Nerve 18(3), 283-291 (1995
56. Schade van Westrum SM, Hoogerwaard EM, Dekker L et al. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy. Neurology 77(1), 62-66 (2011
57. Bushby K, Muntoni F, Bourke JP. 107th ENMC International Workshop: The management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, The Netherlands. Neuromuscul. Disord. 13(2), 166-172 (2003
58. Cohen N, Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 90(8), 835-841 (2004
59. Feng J, Yan J, Buzin CH, Towbin JA, Sommer SS. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol. Genet. Metab. 77(1-2), 119-126 (2002
60. 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. 58(9), 925-934 (2011
61. Capetanaki Y, Milner DJ. Desmin cytoskeleton in muscle integrity and function. Subcell. Biochem. 31463-31495 (1998
62. Goldfarb LG, Dalakas MC. Tragedy in a heartbeat: Malfunctioning desmin causes skeletal and cardiac muscle disease. J. Clin. Invest. 119(7), 1806-1813 (2009
63. Capetanaki Y. Desmin cytoskeleton: A potential regulator of muscle mitochondrial behavior and function. Trends Cardiovasc. Med. 12(8), 339-348 (2002
64. Clemen CS, Herrmann H, Strelkov SV, Schroder R. Desminopathies: Pathology and mechanisms. Acta Neuropathol. 125(1), 47-75 (2013
65. van Spaendonck-Zwarts K, van Hessem L, Jongbloed J et al. Desmin-related myopathy. Clin. Genet. 80(4), 354-366 (2011
66. Price MG. Molecular analysis of intermediate filament cytoskeleton-A putative load-bearing structure. Am. J. Physiol. 246(4 Pt 2), H566-H572 (1984
67. MacLennan DH, Kranias EG. Phospholamban: A crucial regulator of cardiac contractility. Nat. Rev. Mol. Cell. Biol. 4(7), 566-577 (2003
68. Haghighi K, Gregory KN, Kranias EG. Sarcoplasmic reticulum Ca-ATPase-phospholamban interactions and dilated cardiomyopathy. Biochem. Biophys. Res. Commun. 322(4), 1214-1222 (2004
69. Medeiros A, Biagi DG, Sobreira TJ et al. Mutations in the human phospholamban gene in patients with heart failure. Am. Heart J. 162(6), 1088-1095.e1 (2011
70. Schmitt JP, Kamisago M, Asahi M et al. Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban. Science 299(5611), 1410-1413 (2003
71. DeWitt MM, MacLeod HM, Soliven B, McNally EM. Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy. J. Am. Coll. Cardiol. 48(7), 1396-1398 (2006
72. Stuurman N, Heins S, Aebi U. Nuclear lamins: Their structure, assembly, and interactions. J. Struct. Biol. 122(1-2), 42-66 (1998
73. Mendez-Lopez I, Worman HJ. Inner nuclear membrane proteins: Impact on human disease. Chromosoma 121(2), 153-167 (2012
74. Hutchison CJ, Alvarez-Reyes M, Vaughan OA Lamins in disease: Why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes? J. Cell Sci. 114(Pt 1), 9-19 (2001
75. Wilson KL. The nuclear envelope, muscular dystrophy and gene expression. Trends Cell. Biol. 10(4), 125-129 (2000
76. 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. 39(6), 981-990 (2002
77. Taylor MR, Fain PR, Sinagra G et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J. Am. Coll. Cardiol. 41(5), 771-780 (2003
78. Pasotti M, Klersy C, Pilotto A et al. Long-Term outcome and risk stratification in dilated cardiolaminopathies. J. Am. Coll. Cardiol. 52(15), 1250-1260 (2008
79. van Rijsingen IA, 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. 59(5), 493-500 (2012
80. Meune C, Van Berlo JH, Anselme F et al. Primary prevention of sudden death in patients with lamin A/C gene mutations. N. Engl. J. Med. 354(2), 209-210 (2006
81. Parmar MS, Parmar KS. Emery-Dreifuss humeroperoneal muscular dystrophy: Cardiac manifestations. Can. J. Cardiol. 28(4), 516. e1-516 e3 (2012
82. Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat. Genet. 24(2), 153-156 (2000
83. Spencer CT, Bryant RM, Day J et al. Cardiac and clinical phenotype in Barth syndrome. Pediatrics 118(2), e337-e346 (2006
84. Houtkooper RH, Turkenburg M, Poll-The BT et al. The enigmatic role of tafazzin in cardiolipin metabolism. Biochim. Biophys. Acta 1788(10), 2003-2014 (2009
85. Houtkooper RH, Vaz FM. Cardiolipin, the heart of mitochondrial metabolism. Cell. Mol. Life Sci. 65(16), 2493-2506 (2008
86. Acehan D, Khuchua Z, Houtkooper RH et al. Distinct effects of tafazzin deletion in differentiated and undifferentiated mitochondria. Mitochondrion 9(2), 86-95 (2009
87. Roberts AE, Nixon C, Steward CG et al. The Barth Syndrome Registry: Distinguishing disease characteristics and growth data from a longitudinal study. Am. J. Med. Genet. A 158A(11), 2726-2732 (2012
88. Ronvelia D, Greenwood J, Platt J, Hakim S, Zaragoza MV. Intrafamilial variability for novel TAZ gene mutation: Barth syndrome with dilated cardiomyopathy and heart failure in an infant and left ventricular noncompaction in his great-uncle. Mol. Genet. Metab. 107(3), 428-432 (2012
89. Spencer CT, Byrne BJ, Gewitz MH et al. Ventricular arrhythmia in the X-linked cardiomyopathy Barth syndrome. Pediatr. Cardiol. 26(5), 632-637 (2005
90. Bowron A, Frost R, Powers VE et al. Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. J. Inherit. Metab. Dis. doi:10.1007/ s10545-012-9552-4 (2012) (Epub ahead of print
91. Basso C, Czarnowska E, Della Barbera M et al. Ultrastructural evidence of intercalated disc remodelling in arrhythmogenic right ventricular cardiomyopathy: An electron microscopy investigation on endomyocardial biopsies. Eur. Heart J. 27(15), 1847-1854 (2006
92. Corrado D, Basso C, Pilichou K, Thiene G. Molecular biology and clinical management of arrhythmogenic right ventricular cardiomyopathy/dysplasia. Heart 97(7), 530-539 (2011
93. Elliott P, O'Mahony C, Syrris P et al. Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. Circ. Cardiovasc. Genet. 3(4), 314-322 (2010
94. Garcia-Pavia P, Syrris P, Salas C et al. Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: A clinicopathological study. Heart 97(21), 1744-1752 (2011
95. Hodgkinson KA, Connors SP, Merner N et al. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. Clin. Genet. 83(4), 321-331 (2013
96. Taylor M, Graw S, Sinagra G et al. Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. Circulation 124(8), 876-885 (2011
97. Quarta G, Syrris P, Ashworth M et al. Mutations in the lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. Eur. Heart J. 33(9), 1128-1136 (2012
98. Rook MB, Evers MM, Vos MA, Bierhuizen MF. Biology of cardiac sodium channel Nav1.5 expression. Cardiovasc. Res. 93(1), 12-23 (2012
99. Ruan Y, Liu N, Priori SG. Sodium channel mutations and arrhythmias. Nat. Rev. Cardiol. 6(5), 337-348 (2009
100. McNair WP, Sinagra G, Taylor MR et al. SCN5A mutations associate with arrhythmic dilated cardiomyopathy and commonly localize to the voltage-sensing mechanism. J. Am. Coll. Cardiol. 57(21), 2160-2168 (2011